Biochemistry, Genetics and Molecular Biology › Genetics

Sex Determination and Differentiation in Organisms

Works Count: 39144

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Description

This cluster of papers explores the genetic, physiological, and environmental influences on sex determination and differentiation in various organisms. It covers topics such as X chromosome inactivation, Y chromosome degeneration, gonadal development, sexually dimorphic gene expression, Turner syndrome, SRY gene function, aromatase expression, Wnt signaling pathway, and temperature-dependent sex determination.

Keywords

Sex Determination; X Chromosome Inactivation; Y Chromosome Degeneration; Gonadal Development; Sexually Dimorphic Gene Expression; Turner Syndrome; SRY Gene; Aromatase Expression; Wnt Signaling Pathway; Temperature-Dependent Sex Determination

Female development in mammals is regulated by Wnt-4 signalling

1999-02-01

Seppo Vainio , Minna Heikkilä , Andreas Kispert +2 more

Sex chromatin and gene action in the mammalian X-chromosome.

1962-06-01

Mary F. Lyon

Sox9 is required for cartilage formation

1999-05-01

Weimin Bi , Jian Min Deng , Zhaoping Zhang +2 more

Normal genetically mosaic mice produced from malignant teratocarcinoma cells.

1975-09-01

Beatrice Mintz , Karl Illmensee

Malignant mouse teratocarcinoma (or embryonal carcinoma) cells with a normal modal chromosome number were taken from the "cores" of embryoid bodies grown only in vivo as an ascites tumor for … Malignant mouse teratocarcinoma (or embryonal carcinoma) cells with a normal modal chromosome number were taken from the "cores" of embryoid bodies grown only in vivo as an ascites tumor for 8 years, and were injected into blastocysts bearing many genetic markers, in order to test the developmental capacities, genetic constitution, and reversibility of malignancy of the core cells. Ninety-three live normal pre- and postnatal animals were obtained. Of 14 thus far analyzed, three were cellular genetic mosaics with substantial contributions of tumor-derived cells in many developmentally unrelated tissues, including some never seen in the solid tumors that form in transplant hosts. The tissues functioned normally and synthesized their specific products (e.g., immunoglobulins, adult hemoglobin, liver proteins) coded for by strain-type alleles at known loci. In addition, a tumor-contributed color gene, steel, not previously known to be present in the carcinoma cells, was detected from the coat phenotype. Cells derived from the carcinoma, which is of X/Y sex chromosome constitution, also contributed to the germ line and formed reproductively functional sperms, some of which transmitted the steel gene to the progeny. Thus, after almost 200 transplant generations as a highly malignant tumor, embryoid body core cells appear to be developmentally totipotent and able to express, in an orderly sequence in differentiation of somatic and germ-line tissues, many genes hitherto silent in the tumor of origin. This experimental system of "cycling" teratocarcinoma core cells through mice, in conjunction with experimental mutagenesis of those cells, may therefore provide a new and useful tool for biochemical, developmental, and genetic analyses of mammalian differentiation. The results also furnish an unequivocal example in animals of a non-mutational basis for transformation to malignancy and of reversal to normalcy. The origin of this tumor from a disorganized embryo suggests that malignancies of some other, more specialized, stem cells might arise comparably through tissue disorganization, leading to developmental aberrations of gene expression rather than changes in gene structure.

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Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

1994-12-01

Jamie W. Foster , M. Dominguez-Steglich , Silvana Guioli +7 more

A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

1991-01-01

Carolyn J. Brown , Andrea Ballabio , James L. Rupert +4 more

Polycomb Proteins Targeted by a Short Repeat RNA to the Mouse X Chromosome

2008-10-30

Jing Crystal Zhao , Bryan K. Sun , Jennifer A. Erwin +2 more

To equalize X-chromosome dosages between the sexes, the female mammal inactivates one of her two X chromosomes. X-chromosome inactivation (XCI) is initiated by expression of Xist, a 17-kb noncoding RNA … To equalize X-chromosome dosages between the sexes, the female mammal inactivates one of her two X chromosomes. X-chromosome inactivation (XCI) is initiated by expression of Xist, a 17-kb noncoding RNA (ncRNA) that accumulates on the X in cis. Because interacting factors have not been isolated, the mechanism by which Xist induces silencing remains unknown. We discovered a 1.6-kilobase ncRNA (RepA) within Xist and identified the Polycomb complex, PRC2, as its direct target. PRC2 is initially recruited to the X by RepA RNA, with Ezh2 serving as the RNA binding subunit. The antisense Tsix RNA inhibits this interaction. RepA depletion abolishes full-length Xist induction and trimethylation on lysine 27 of histone H3 of the X. Likewise, PRC2 deficiency compromises Xist up-regulation. Therefore, RepA, together with PRC2, is required for the initiation and spread of XCI. We conclude that a ncRNA cofactor recruits Polycomb complexes to their target locus.

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Completion of mouse embryogenesis requires both the maternal and paternal genomes

1984-05-01

James McGrath , Davor Solter

Spermatogenesis in fish

2009-04-07

Rüdiger Schulz , Luiz R. França , Jean‐Jacques Lareyre +4 more

Sex determination and sex differentiation in fish: an overview of genetic, physiological, and environmental influences

2002-06-01

Robert H. Devlin , Yoshitaka Nagahama

Chromosomal Localization of Mouse Satellite DNA

1970-06-12

Mary Lou Pardue , Joseph G. Gall

Hybridization of radioactive nucleic acids with the DNA of cytological preparations shows that the sequences of mouse satellite DNA are located in the centromeric heterochromatin of the mouse chromosomes. Other … Hybridization of radioactive nucleic acids with the DNA of cytological preparations shows that the sequences of mouse satellite DNA are located in the centromeric heterochromatin of the mouse chromosomes. Other types of heterochromatin in the cytological preparations do not contain satellite DNA.

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

1997-05-01

Ercole Rao , Birgit Weiß , Maki Fukami +7 more

The human Y chromosome: an evolutionary marker comes of age

2003-08-01

Mark A. Jobling , Chris Tyler‐Smith

Male development of chromosomally female mice transgenic for Sry

1991-05-01

Peter Koopman , John Gubbay , Nigel Vivian +2 more

Circular transcripts of the testis-determining gene Sry in adult mouse testis

1993-06-01

Blanche Capel , Amanda Swain , Silvia K. Nicolis +5 more

Genetic Epidemiology of Hearing Impairment

1991-09-01

Newton E. Morton

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

1990-07-01

Andrew Sinclair , Philippe Berta , Mark S. Palmer +7 more

X-inactivation profile reveals extensive variability in X-linked gene expression in females

2005-03-01

Laura Carrel , Huntington F. Willard

A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes

1990-07-01

John Gubbay , Jérôme Collignon , Peter Koopman +6 more

SOX2 Functions to Maintain Neural Progenitor Identity

2003-08-01

Victoria Graham , Jane Khudyakov , Peter Ellis +1 more

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Genetic evidence equating SRY and the testis-determining factor

1990-11-01

Philippe Berta , J Hawkins , Andrew Sinclair +4 more

The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

1992-10-01

Carolyn J. Brown , Brian Hendrich , Jim L. Rupert +4 more

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

2008-05-04

Ryohei Sekido , Robin Lovell‐Badge

A simple technique for demonstrating centromeric heterochromatin

1972-11-01

A. T. Sumner

The evolution of sex-biased genes and sex-biased gene expression

2007-08-07

Hans Ellegren , John Parsch

The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus

1992-10-01

Neil Brockdorff , Alan Ashworth , Graham F. Kay +5 more

Phylogeny of the SOX Family of Developmental Transcription Factors Based on Sequence and Structural Indicators

2000-11-01

Josephine Bowles , Goslik Schepers , Peter Koopman

X chromosome-linked muscular dystrophy (mdx) in the mouse.

1984-02-01

G. Bulfield , W. G. Siller , P.A.L. Wight +1 more

An X chromosome-linked mouse mutant (gene symbol, mdx) has been found that has elevated plasma levels of muscle creatine kinase and pyruvate kinase and exhibits histological lesions characteristic of muscular … An X chromosome-linked mouse mutant (gene symbol, mdx) has been found that has elevated plasma levels of muscle creatine kinase and pyruvate kinase and exhibits histological lesions characteristic of muscular dystrophy. The mutants show mild clinical symptoms and are viable and fertile. Linkage analysis with four X chromosome loci indicates that mdx maps in the Hq Bpa region of the mouse X chromosome. This gives a gene order of mdx-Tfm-Pgk-1-Ags, the same as for the equivalent genes on the human X chromosome.

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Klinefelter's syndrome

2004-07-01

Fabio Lanfranco , Axel Kamischke , Michael Zitzmann +1 more

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

2003-06-18

Helen Skaletsky , Tomoko Kuroda-Kawaguchi , Patrick Minx +7 more

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Armadillo Coactivates Transcription Driven by the Product of the Drosophila Segment Polarity Gene dTCF

1997-03-01

Marc van de Wetering , Rossana Cavallo , Dennis Dooijes +7 more

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DMY is a Y-specific DM-domain gene required for male development in the medaka fish

2002-05-01

Masaru Matsuda , Yoshitaka Nagahama , Ai Shinomiya +7 more

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

2001-02-01

Laura Crisponi , Manila Deiana , Angela Loi +7 more

Four Evolutionary Strata on the Human X Chromosome

1999-10-29

Bruce T. Lahn , David C. Page

Human sex chromosomes evolved from autosomes. Nineteen ancestral autosomal genes persist as differentiated homologs on the X and Y chromosomes. The ages of individual X-Y gene pairs (measured by nucleotide … Human sex chromosomes evolved from autosomes. Nineteen ancestral autosomal genes persist as differentiated homologs on the X and Y chromosomes. The ages of individual X-Y gene pairs (measured by nucleotide divergence) and the locations of their X members on the X chromosome were found to be highly correlated. Age decreased in stepwise fashion from the distal long arm to the distal short arm in at least four “evolutionary strata.” Human sex chromosome evolution was probably punctuated by at least four events, each suppressing X-Y recombination in one stratum, without disturbing gene order on the X chromosome. The first event, which marked the beginnings of X-Y differentiation, occurred about 240 to 320 million years ago, shortly after divergence of the mammalian and avian lineages.

The DNA sequence of the human X chromosome

2005-03-01

Mark T. Ross , Darren Grafham , Alison J. Coffey +7 more

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Retinoid Signaling Determines Germ Cell Fate in Mice

2006-03-31

Josephine Bowles , Deon Knight , Christopher Smith +7 more

Germ cells in the mouse embryo can develop as oocytes or spermatogonia, depending on molecular cues that have not been identified. We found that retinoic acid, produced by mesonephroi of … Germ cells in the mouse embryo can develop as oocytes or spermatogonia, depending on molecular cues that have not been identified. We found that retinoic acid, produced by mesonephroi of both sexes, causes germ cells in the ovary to enter meiosis and initiate oogenesis. Meiosis is retarded in the fetal testis by the action of the retinoid-degrading enzyme CYP26B1, ultimately leading to spermatogenesis. In testes of Cyp26b1-knockout mouse embryos, germ cells enter meiosis precociously, as if in a normal ovary. Thus, precise regulation of retinoid levels during fetal gonad development provides the molecular control mechanism that specifies germ cell fate.

The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6

2002-11-01

Haruhiko Akiyama , Marie‐Christine Chaboissier , James F. Martin +2 more

To examine whether the transcription factor Sox9 has an essential role during the sequential steps of chondrocyte differentiation, we have used the Cre/loxP recombination system to generate mouse embryos in … To examine whether the transcription factor Sox9 has an essential role during the sequential steps of chondrocyte differentiation, we have used the Cre/loxP recombination system to generate mouse embryos in which either Sox9 is missing from undifferentiated mesenchymal cells of limb buds or the Sox9 gene is inactivated after chondrogenic mesenchymal condensations. Inactivation of Sox9 in limb buds before mesenchymal condensations resulted in a complete absence of both cartilage and bone, but markers for the different axes of limb development showed a normal pattern of expression. Apoptotic domains within the developing limbs were expanded, suggesting that Sox9 suppresses apoptosis. Expression of Sox5 and Sox6, two other Sox genes involved in chondrogenesis, was no longer detected. Moreover, expression of Runx2, a transcription factor needed for osteoblast differentiation, was also abolished. Embryos, in which Sox9 was deleted after mesenchymal condensations, exhibited a severe generalized chondrodysplasia, similar to that in Sox5; Sox6 double-null mutant mice. Most cells were arrested as condensed mesenchymal cells and did not undergo overt differentiation into chondrocytes. Furthermore, chondrocyte proliferation was severely inhibited and joint formation was defective. Although Indian hedgehog, Patched1, parathyroid hormone-related peptide (Pthrp), and Pth/Pthrp receptor were expressed, their expression was down-regulated. Our experiments further suggested that Sox9 is also needed to prevent conversion of proliferating chondrocytes into hypertrophic chondrocytes. We conclude that Sox9 is required during sequential steps of the chondrocyte differentiation pathway.

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SOX9 Is a Potent Activator of the Chondrocyte-Specific Enhancer of the Proα1(II) Collagen Gene

1997-04-01

Véronique Lefebvre , Wendong Huang , Vincent R. Harley +2 more

The identification of mutations in the SRY-related SOX9 gene in patients with campomelic dysplasia, a severe skeletal malformation syndrome, and the abundant expression of Sox9 in mouse chondroprogenitor cells and … The identification of mutations in the SRY-related SOX9 gene in patients with campomelic dysplasia, a severe skeletal malformation syndrome, and the abundant expression of Sox9 in mouse chondroprogenitor cells and fully differentiated chondrocytes during embryonic development have suggested the hypothesis that SOX9 might play a role in chondrogenesis. Our previous experiments with the gene (Col2a1) for collagen II, an early and abundant marker of chondrocyte differentiation, identified a minimal DNA element in intron 1 which directs chondrocyte-specific expression in transgenic mice. This element is also a strong chondrocyte-specific enhancer in transient transfection experiments. We show here that Col2a1 expression is closely correlated with high levels of SOX9 RNA and protein in chondrocytes. Our experiments indicate that the minimal Col2a1 enhancer is a direct target for Sox9. Indeed, SOX9 binds to a sequence of the minimal Col2a1 enhancer that is essential for activity in chondrocytes, and SOX9 acts as a potent activator of this enhancer in cotransfection experiments in nonchondrocytic cells. Mutations in the enhancer that prevent binding of SOX9 abolish enhancer activity in chondrocytes and suppress enhancer activation by SOX9 in nonchondrocytic cells. Other SOX family members are ineffective. Expression of a truncated SOX9 protein lacking the transactivation domain but retaining DNA-binding activity interferes with enhancer activation by full-length SOX9 in fibroblasts and inhibits enhancer activity in chondrocytes. Our results strongly suggest a model whereby SOX9 is involved in the control of the cell-specific activation of COL2A1 in chondrocytes, an essential component of the differentiation program of these cells. We speculate that in campomelic dysplasia a decrease in SOX9 activity would inhibit production of collagen II, and eventually other cartilage matrix proteins, leading to major skeletal anomalies.

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Sex Determination: Why So Many Ways of Doing It?

2014-07-01

Doris Bachtrog , Judith E. Mank , Catherine L. Peichel +7 more

Sex is universal amongst most eukaryotes, yet a remarkable diversity of sex determining mechanisms exists. We review our current understanding of how and why sex determination evolves in animals and … Sex is universal amongst most eukaryotes, yet a remarkable diversity of sex determining mechanisms exists. We review our current understanding of how and why sex determination evolves in animals and plants.

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Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

1994-12-01

Thomas Wagner , Jutta Wirth , Jobst Meyer +7 more

Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group

2006-10-24

Carolyn A. Bondy

The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS).The Turner Syndrome Consensus Study Group is a … The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS).The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, Maryland, April 2006. The meeting was supported by the National Institute of Child Health and unrestricted educational grants from pharmaceutical companies.The study group used peer-reviewed published information to form its principal recommendations. Expert opinion was used where good evidence was lacking.The study group met for 3 d to discuss key issues. Breakout groups focused on genetic, cardiological, auxological, psychological, gynecological, and general medical concerns and drafted recommendations for presentation to the whole group. Draft reports were available for additional comment on the meeting web site. Synthesis of the section reports and final revisions were reviewed by e-mail and approved by whole-group consensus.We suggest that parents receiving a prenatal diagnosis of TS be advised of the broad phenotypic spectrum and the good quality of life observed in TS in recent years. We recommend that magnetic resonance angiography be used in addition to echocardiography to evaluate the cardiovascular system and suggest that patients with defined cardiovascular defects be cautioned in regard to pregnancy and certain types of exercise. We recommend that puberty should not be delayed to promote statural growth. We suggest a comprehensive educational evaluation in early childhood to identify potential attention-deficit or nonverbal learning disorders. We suggest that caregivers address the prospect of premature ovarian failure in an open and sensitive manner and emphasize the critical importance of estrogen treatment for feminization and for bone health during the adult years. All individuals with TS require continued monitoring of hearing and thyroid function throughout the lifespan. We suggest that adults with TS be monitored for aortic enlargement, hypertension, diabetes, and dyslipidemia.

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Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene

1995-08-01

Renee A. Reijo Pera , Tien-Yi Lee , Pia Salo +7 more

Cross-priming for a secondary cytotoxic response to minor H antigens with H-2 congenic cells which do not cross-react in the cytotoxic assay.

1976-05-01

M J Bevan

Cytotoxic effector T cells of F1 (BALB/c X BALB.B) (H-2d/b) mice immunized against the minor histocompatibility differences of C57BL/10 (H-2b) can lyse targets from C57BL/10, but cannot lyse B10.D2 (H-2d) … Cytotoxic effector T cells of F1 (BALB/c X BALB.B) (H-2d/b) mice immunized against the minor histocompatibility differences of C57BL/10 (H-2b) can lyse targets from C57BL/10, but cannot lyse B10.D2 (H-2d) targets. Despite this lack of cross-reaction in the cytotoxic assay, C57BL/10 cells do prime F1 (BALB/c X BALB.B) mice for a secondary cytotoxic response to B10.D2. C57BL/10-primed, B10.D2-boosted cytotoxic cells lyse B10.D2 targets but not C57BL/10 targets. DBA/2 (H-2d) spleen cells or thymocytes prime F1 mice for a secondary response to DBA/2, B10.D2, and C57BL/10 cells, but DBA/2 mastocytes, P815, do not prime for a response to C57BL/10. Whether H-2 congenic lymphoid cells express minor histocompatibility determinants which cross-react at the cytotoxic T-cell level or the helper T-cell level is discussed.

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Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11

1996-07-01

P. H. Vogt

In a large collaborative screening project, 370 men with idiopathic azoospermia or severe oligozoospermia were analysed for deletions of 76 DNA loci in Yq11. In 12 individuals, we observed de … In a large collaborative screening project, 370 men with idiopathic azoospermia or severe oligozoospermia were analysed for deletions of 76 DNA loci in Yq11. In 12 individuals, we observed de novo microdeletions involving several DNA loci, while an additional patient had an inherited deletion. They were mapped to three different subregions in Yq11. One subregion coincides to the AZF region defined recently in distal Yq11. The second and third subregion were mapped proximal to it, in proximal and middle Yq11, respectively. The different deletions observed were not overlapping but the extension of the deleted Y DNA in each subregion was similar in each patient analysed. In testis tissue sections, disruption of spermatogenesis was shown to be at the same phase when the microdeletion occurred in the same Yq11 subregion but at a different phase when the microdeletion occurred in a different Yq11 subregion. Therefore, we propose the presence of not one but three spermatogenesis loci in Yq11 and that each locus is active during a different phase of male germ cell development. As the most severe phenotype after deletion of each locus is azoospermia, we designated them as: AZFa, AZFb and AZFc. Their probable phase of function in human spermatogenesis and candidate genes involved will be discussed.

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Adaptive Evolution of Pelvic Reduction in Sticklebacks by Recurrent Deletion of a Pitx1 Enhancer

2009-12-11

Yingguang Frank Chan , Melissa E. Marks , Felicity C. Jones +7 more

Adaptive Girdle Loss in Sticklebacks How do molecular changes give rise to phenotypic adaptation exemplified by the repeated reduction in the pelvic girdle observed in separate populations of sticklebacks? Now … Adaptive Girdle Loss in Sticklebacks How do molecular changes give rise to phenotypic adaptation exemplified by the repeated reduction in the pelvic girdle observed in separate populations of sticklebacks? Now Chan et al. (p. 302 , published online 10 December) have identified the specific DNA changes that control this major skeletal adaptation. The key locus controlling pelvic phenotypes mapped to a noncoding regulatory region upstream of the Pituitary homeobox transcription factor 1 gene, which drives a tissue-specific pelvic enhancer. Multiple populations showed independent deletions in this region and enhancer function was inactivated. Reintroduction of the enhancer restored pelvic development in a pelvic-reduced stickleback.

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Sex Chromosomes and Sex-linked Genes.

1968-06-01

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Landscape of X chromosome inactivation across human tissues

2017-10-10

Taru Tukiainen , Alexandra‐Chloé Villani , Angela Yen +7 more

Abstract X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, … Abstract X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, however, incomplete in humans: up to one-third of X-chromosomal genes are expressed from both the active and inactive X chromosomes (Xa and Xi, respectively) in female cells, with the degree of ‘escape’ from inactivation varying between genes and individuals 1,2 . The extent to which XCI is shared between cells and tissues remains poorly characterized 3,4 , as does the degree to which incomplete XCI manifests as detectable sex differences in gene expression 5 and phenotypic traits 6 . Here we describe a systematic survey of XCI, integrating over 5,500 transcriptomes from 449 individuals spanning 29 tissues from GTEx (v6p release) and 940 single-cell transcriptomes, combined with genomic sequence data. We show that XCI at 683 X-chromosomal genes is generally uniform across human tissues, but identify examples of heterogeneity between tissues, individuals and cells. We show that incomplete XCI affects at least 23% of X-chromosomal genes, identify seven genes that escape XCI with support from multiple lines of evidence and demonstrate that escape from XCI results in sex biases in gene expression, establishing incomplete XCI as a mechanism that is likely to introduce phenotypic diversity 6,7 . Overall, this updated catalogue of XCI across human tissues helps to increase our understanding of the extent and impact of the incompleteness in the maintenance of XCI.

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Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

2017-07-14

Claus Højbjerg Gravholt , N.H. Andersen , Gerard Conway +7 more

Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important … Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with The European Society for Pediatric Endocrinology, The Endocrine Society, European Society of Human Reproduction and Embryology, The American Heart Association, The Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society for Endocrinology, the Pediatric Endocrine Society, the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the consensus meeting.

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Requirement for Xist in X chromosome inactivation

1996-03-01

Sex Chromosomes and Sex-Linked Genes

1967-01-01

Susumu Ohno

Natural selection operates among individual organisms which differ in their genetic constitution. The degree of hereditary variability within a species is greatly enhanced by cross-fertilization. Inde Natural selection operates among individual organisms which differ in their genetic constitution. The degree of hereditary variability within a species is greatly enhanced by cross-fertilization. Inde

Identifying sex-chromosome-linked determinants of sexual differentiation in a WZ-ZZ sex inheritance crustacean

2025-06-25

Melody Wahl , Yaniv Borojovich , Tom Levy +7 more | Biology of Reproduction

Abstract Sex determination triggers transcriptional cascades, leading to the development of male or female phenotypes. The aim of this study was to shed light on the linkage between sex determination … Abstract Sex determination triggers transcriptional cascades, leading to the development of male or female phenotypes. The aim of this study was to shed light on the linkage between sex determination and sexual differentiation by identifying key W/Z-linked elements that control sexual differentiation in crustaceans with the WZ-ZZ mode of sex inheritance. To this end, we leveraged our previous studies on the insulin-like androgenic gland (IAG) hormone, which serves as a master switch – termed the “IAG switch” – in the freshwater prawn Macrobrachium rosenbergii, in which manipulations of the IAG-switch afforded functional WZ males, ZZ females, and even WW males and females. To uncover the link between sex determination and sexual differentiation, males and females lacking either the W or the Z chromosome were used to establish a transcriptomic library of early developmental stages (embryo, larva and post-larva), followed by clustering analysis of differentially expressed genes. Mapping of these genes to the M. rosenbergii sex chromosomes yielded W/Z-linked candidates with a male-biased expression pattern culminating at day 10 post larvae (PL10), which marks the phenotypic sexual differentiation stage. Among these genes, two leading candidates were identified, namely, a W/Z-associated coding gene (cytochrome P450 4c3-like, MrCYP4), and a Z-specific long noncoding RNA (MrZlnc). Silencing of these two candidates caused a reduction in MrIAG expression and vice versa, clearly indicating crosstalk with the IAG-switch. The study thus constitutes the first step in unravelling key elements that control sexual differentiation in crustaceans exhibiting WZ-ZZ sex inheritance.

Escape genes from X-chromosome inactivation: new insights into candidate genes for intellectual disability in females

2025-06-24

Luiz Antônio Alcântara de Oliveira , Rafael Mina Piergiorge , Cíntia Barros Santos-Rebouças | The World Journal of Biological Psychiatry

X-chromosome inactivation (XCI) is a dosage compensation mechanism in female mammals. Given that the Xchromosome harbours numerous genes implicated in cognitive function, variants in these genes can affect neurodevelopment and … X-chromosome inactivation (XCI) is a dosage compensation mechanism in female mammals. Given that the Xchromosome harbours numerous genes implicated in cognitive function, variants in these genes can affect neurodevelopment and contribute to Intellectual Disability (ID). While research on ID has predominantly focused on males due to their hemizygous Xchromosome state, females, though often presenting with milder symptoms, may be affected by escape genes that evade XCI and influence the phenotype. This study investigated the role of escape genes in female ID. We employed data mining to analyse X-chromosome genes based on their XCI status, followed by functional enrichment analyses. Additionally, we conducted co-expression module evaluations in the main brain regions associated with ID and a protein-protein interaction (PPI) network analysis. We identified 31 significant modules linking XCI escape genes with ID-associated genes. The PPI network analysis further revealed direct interactions between the products of 25 genes and ID-related proteins. Five new candidate genes (RBMX2, PNPLA4, UBA1, RPS4X, and EIF1AX) were identified, four linked to known ID pathways. This study underscores the importance of escape genes in the context of female ID and paves the way for future experimental validation and molecular investigations into the functions of these genes.

Repeatome Dynamics and Sex Chromosome Differentiation in the XY and XY1Y2 Systems of the Fish Hoplias malabaricus (Teleostei; Characiformes)

2025-06-24

Mariannah Pravatti Barcellos de Oliveira , Geize Aparecida Deon , Francisco de Menezes Cavalcante Sassi +7 more | International Journal of Molecular Sciences

The wolf fish Hoplias malabaricus is a Neotropical species characterized by remarkable karyotypic diversity, including seven karyomorphs (KarA-G) with distinct sex chromosome systems. This study investigated the homologous XY (KarF) … The wolf fish Hoplias malabaricus is a Neotropical species characterized by remarkable karyotypic diversity, including seven karyomorphs (KarA-G) with distinct sex chromosome systems. This study investigated the homologous XY (KarF) and XY1Y2 (KarG) sex chromosome systems present in this species by integrating cytogenetics and genomics to examine sex chromosomes’ composition through characterization of repeatome (satellite DNA and transposable elements) and sex-linked markers. Our analysis indicated that both karyomorphs are little differentiated in their sex chromosomes content revealed by satDNA mapping and putative sex-linked markers. Both repeatomes were mostly composed of transposable elements, but neither intra- (male versus female) nor interspecific (KarF x KarG) variations were found. In both systems, we demonstrated the occurrence of sex-specific sequences probably located on the non-recombining region of the Y chromosome supported by the accumulation of sex-specific haplotypes of HmfSat10-28/HmgSat31-28. This investigation offered valuable insights by highlighting the composition of homologous XY and XY1Y2 multiple sex chromosomes. Although homologous, the large Y chromosome in KarF corresponds to two separate linkage groups (Y1 and Y2) in KarG implying a specific meiotic arrangement involving the X chromosome in a meiotic trivalent chain. This scenario likely influenced recombination rates and, as a result, the genomic composition of these chromosomes.

Extensive recombination suppression and genetic degeneration of a young ZW sex chromosome system in halfbeak fish

2025-06-24

Teng‐Fei Xing , Yulong Li , Hao Yang +2 more | Molecular Biology and Evolution

Sex chromosome systems have evolved independently across the tree of life, at different times in the past, and the evolutionary consequences of lacking recombination in sex-linked regions have been characterized … Sex chromosome systems have evolved independently across the tree of life, at different times in the past, and the evolutionary consequences of lacking recombination in sex-linked regions have been characterized in many old-established systems. However, empirical studies of young sex chromosomes are still scarce, especially in vertebrates. Integrating whole-genome sequencing data of two species of halfbeak fish, Hyporhamphus sajori and H. intermedius, we identified the sex determining system in H. sajori as female heterogamety, involving a large fully sex-linked ZW region (∼26 Mb) on chromosome 5. The closest relative, H. intermedius, has a small sex-linked region on a different chromosome, and shows male heterogamety, suggesting at least one turnover in this fish genus. The H. sajori sex-linked region includes two evolutionary strata, but the estimated Z-W divergence times are small, less than 3 million years for the older stratum, which is less than between the two species. Nevertheless, this evolutionarily young W-linked region is enriched with repetitive sequences, differs from the ancestral state by five inversions, and about one-third of its protein-coding genes have already become non-functional. Transcriptomic analysis suggests that some form of dosage compensation may already be evolving for some sex-linked genes.

Single-Cell RNA Sequencing Delineates the Atlas and Cell Interactions of the Testicular Cells in Chinese Soft-Shelled Turtle (Pelodiscus sinensis)

2025-06-23

Jingting Yao , Sendong Li , Wenzhuo Ban +4 more | Marine Biotechnology

A novel variant in NPR2: C.2291T > C (p.Leu764Pro) identified in a patient with acromesomelic dysplasia Maroteaux type

2025-06-23

Yi Dong , Steven Lim Cho Pei , Zhiyong Yang +2 more | The Italian Journal of Pediatrics/Italian journal of pediatrics

Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive skeletal dysplasia with an estimated prevalence of 1:1,000,000. It is characterized by extreme shortening of the forelimbs and disproportionate short … Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive skeletal dysplasia with an estimated prevalence of 1:1,000,000. It is characterized by extreme shortening of the forelimbs and disproportionate short stature. Here we present the clinical and genetic features of an 8-year-8-month-old boy exhibiting idiopathic short stature and abnormal changes of the appendicular skeleton and axial skeleton, consistent with the established phenotypic spectrum of AMDM. Using diagnostic exome sequencing, we identified two variants in NPR2: a known pathogenic nonsense variant, C.2965 C > T (p.Arg989*), and a missense variant of unknown significance, C.2291T > C (p.Leu764Pro), which has never been reported before. Sanger sequencing confirmed that the variants were inherited from his phenotypically normal parents. The proband is compound heterozygous, while both parents are heterozygous carriers, indicating an autosomal recessive pattern of inheritance. This study enriches the pathogenic gene mutation spectrum of NPR2 in patients with AMDM and further emphasizes the application of molecular genetic detection in the diagnosis of rare skeletal abnormalities.

Parsonage-Turner syndrome

2025-06-21

Mostafa Mohamed | Radiopaedia.org

Recommendations for diagnosis and treatment of the aging male with Klinefelter syndrome

2025-06-19

Michael Zitzmann , Andrea Sansone , Emmanuele A. Jannini +3 more | The Aging Male

This is the inaugural recommendation for the management of the Aging Male with Klinefelter Syndrome (KS), a demographic characterized by primary hypogonadism in the presence of one or more supernumerary … This is the inaugural recommendation for the management of the Aging Male with Klinefelter Syndrome (KS), a demographic characterized by primary hypogonadism in the presence of one or more supernumerary X-chromosomes with irregular gene-inactivation, and metabolic dysregulation, contributing a component of functional hypogonadism as aging in these men progresses. The unique constellation of symptoms spanning multiple organ systems and health domains necessitates specialized diagnostic and therapeutic strategies. Neglecting the specific needs of this population can precipitate a considerable decline in quality of life and overall health outcomes. Our recommendations advocate for a multidisciplinary approach involving endocrinologists, urologists, geneticists, mental health professionals, and other specialists, to address the complex interplay of hormonal imbalances, metabolic disorders, cardiovascular risk factors including arrhythmia, bone health concerns, psychological and sexual challenges, ophthalmological problems, and dental issues. By providing a structured framework for comprehensive and individualized care, these recommendations aim to bridge existing healthcare gaps, optimize well-being, and enhance the overall quality of life for aging men with KS.

Psychiatric Symptoms and Neuropsychological Findings in an Extremely Rare Case of 47,<scp>XXY</scp> Presenting With a Female Phenotype due to Deletion of the <scp>SRY</scp> Gene

2025-06-19

Lucas Giraldelli , Arthur Tolentino , Felipe Mendonça Rocha Barros +5 more | American Journal of Medical Genetics Part B Neuropsychiatric Genetics

Single-nucleus transcriptomics of wing sexual dimorphism and scale cell specialization in sulphur butterflies

2025-06-18

Ling S. Loh , Joseph J. Hanly , Alexander Carter +7 more | PLoS Biology

The evolution of sexual secondary characteristics necessitates regulatory factors that confer sexual identity to differentiating tissues and cells. In Colias eurytheme butterflies, males exhibit two specialized wing scale types—ultraviolet-iridescent (UVI) … The evolution of sexual secondary characteristics necessitates regulatory factors that confer sexual identity to differentiating tissues and cells. In Colias eurytheme butterflies, males exhibit two specialized wing scale types—ultraviolet-iridescent (UVI) and spatulate scales—which are absent in females and likely integral to male courtship behavior. This study investigates the regulatory mechanisms and single-nucleus transcriptomics underlying these two sexually dimorphic cell types during wing development. We show that Doublesex ( Dsx ) expression is itself dimorphic and required to repress the UVI cell state in females, while unexpectedly, UVI activation in males is independent from Dsx . In the melanic marginal band, Dsx is required in each sex to enforce the presence of spatulate scales in males, and their absence in females. Single-nucleus RNAseq reveals that UVI and spatulate scale cell precursors each show distinctive gene expression profiles at 40% of pupal development, with marker genes that include regulators of transcription, cell signaling, cytoskeletal patterning, and chitin secretion. Both male-specific cell types share a low expression of the Bric-a-brac ( Bab ) transcription factor, a key repressor of the UVI fate. Bab ChIP-seq profiling suggests that Bab binds the cis -regulatory regions of gene markers associated to UVI fate, including potential effector genes involved in the regulation of cytoskeletal processes and chitin secretion, and loci showing signatures of recent selective sweeps in a UVI-polymorphic population. These findings open new avenues for exploring wing patterning and scale development, shedding light on the mechanisms driving the specification of sex-specific cell states and the differentiation of specialized cell ultrastructures.

Gene duplication, translocation and molecular evolution of Dmrt1 and related sex-determining genes in anurans

2025-06-17

Sagar Sharad Shinde , Paris Veltsos , Wen‐Juan Ma | bioRxiv (Cold Spring Harbor Laboratory)

Sex determination, the developmental process that directs embryos toward male or female fates, is controlled by master sex‐determining genes whose origins and evolutionary dynamics remain poorly understood outside of a … Sex determination, the developmental process that directs embryos toward male or female fates, is controlled by master sex‐determining genes whose origins and evolutionary dynamics remain poorly understood outside of a few model systems. In contrast to the highly differentiated sex chromosomes of mammals, birds, and Drosophila, most anurans (frogs and toads) maintain homomorphic sex chromosomes that exhibit a rapid turnover, even among closely related species. To uncover the mechanisms underlying the emergence of new master sex-determining genes and sex chromosome turnover, we analysed 53 published anurans and one caecilian genome (>200 Ma divergence) and available transcriptomes. We asked how often new master sex-determining genes arise by gene duplication, whether and how often gene translocation associates with sex chromosome turnover, and if new master sex-determining genes evolve under positive selection. We find that chromosome‐level synteny is remarkably conserved, with only a few fusions or fissions and no evidence for translocation of four candidate master sex-determining genes (Dmrt1, Foxl2, Bod1l, Sox3). Only Dmrt1 duplicated in 3 out of 50 species (excluding tetraploid Xenopus), and it showed strong testis-biased expression in all 8 species with available gonadal expression data. While Dmrt1 has evolved under purifying selection, Dmrt1 duplicates exhibit elevated nonsynonymous substitution rates and a tendency towards positive selection. Lineage-specific amino acid changes were observed in the conserved DM domain of Dmrt1. These results demonstrate that, in anurans, master sex-determining genes arise rarely via gene duplication, and more likely evolve via allelic diversification. Sex chromosome turnover is not associated with gene translocation, and is more likely driven by mutations on genes involved in sexual developmental pathway. All candidate sex-determining genes were under strong purifying selection, with the exception of duplications which are linked to positive selection. Our results suggest future research on anuran sex determination and sex chromosome evolution should focus on identifying allelic diversification and novel mutations on genes involved in sexual developmental pathway.

The heterogametic transition in European Bufo toads switches the sex-linkage of key vertebrate sex-determination genes and associates with a large sex-chromosome-effect

2025-06-16

Christophe Dufresnes , Pierre-André Crochet , Beata Rozenblut-Kościsty +4 more | Molecular Biology and Evolution

Abstract Characterizing the diversity and lability of the amphibian sex chromosomes holds key to understand what drives sex chromosome turnovers and assess the role of sex-linked genes in reproductive isolation … Abstract Characterizing the diversity and lability of the amphibian sex chromosomes holds key to understand what drives sex chromosome turnovers and assess the role of sex-linked genes in reproductive isolation and speciation. Here we show that the heterogametic transition previously reported between the hybridizing toads Bufo bufo (ZW) and B. spinosus (XY) is non-homologous, potentially implicates key genes of the vertebrate sex determination cascade (SOX9, DMRT1, AMH), and is characterized by a much shorter ZW than XY segment. Integrating this information with published hybrid zone data suggests that both sex chromosomes resist interspecific introgression more than autosomes. These observations substantiate that sex chromosome turnovers preferentially involve chromosomes that host conserved sex-determining genes, imply heterochiasmy as a key factor of sex chromosome differentiation, and are consistent with a large sex-chromosome-effect, an empirical rule of speciation that is not expected with homomorphic sex chromosomes.

New Insights into the Sex Chromosome Evolution of the Common Barker Frog Species Complex (Anura, Leptodactylidae) Inferred from Its Satellite DNA Content

2025-06-16

Lucas Henrique Bonfim Souza , Juan Martín Ferro , Helena M. Milanez +2 more | Biomolecules

Satellite DNAs (satDNAs) play a crucial role in understanding chromosomal evolution and the differentiation of sex chromosomes across diverse taxa, particularly when high karyotypic diversity occurs. The Physalaemus cuvieri-Physalaemus ephippifer … Satellite DNAs (satDNAs) play a crucial role in understanding chromosomal evolution and the differentiation of sex chromosomes across diverse taxa, particularly when high karyotypic diversity occurs. The Physalaemus cuvieri-Physalaemus ephippifer species complex comprises at least seven divergent lineages, each exhibiting specific karyotypic signatures. The group composed of Ph. ephippifer, Lineage 1B of 'Ph. cuvieri' (L1B), and a lineage resulting from their secondary contact is especially intriguing due to varying degrees of sex chromosome heteromorphism. In this study, we characterized the satellitome of Ph. ephippifer in order to identify novel satDNAs that may provide insights into chromosomal evolution, particularly concerning sex chromosomes. We identified 62 satDNAs in Ph. ephippifer, collectively accounting for approximately 10% of the genome. Notably, nine satDNA families were shared with species from distantly related clades, raising questions about their potential roles in anurans genomes. Among the seven satDNAs mapped via fluorescent in situ hybridization, PepSat3 emerged as a strong candidate for the centromeric sequence in this group. Additionally, PepSat11 and PepSat24 provided evidence supporting a translocation involving both arms of the W chromosome in Ph. ephippifer. Furthermore, a syntenic block composed of PepSat3, PcP190, and PepSat11 suggested an inversion event during the divergence of Ph. ephippifer and L1B. The variation in signal patterns of satDNAs associated with nucleolar organizer regions (NORs) highlights the complexity of NOR evolution in this species complex, which exhibits substantial diversity in this genomic region. Additionally, our findings for PepSat30-350 emphasize the importance of validating the sex-biased abundance of satDNAs.

Molecular characterization and gene expression profile of Foxl2 in the Cherax quadricarinatus

2025-06-16

Yucheng Zhang , Jianbo Zheng , Yangda Zhou +6 more | Israeli Journal of Aquaculture - Bamidgeh

Foxl2 (Forkhead box protein L2), a forkhead transcription factor, plays a pivotal role in the ovarian development of aquatic species. However, the biological function of Foxl2 in Cherax quadricarinatus remains … Foxl2 (Forkhead box protein L2), a forkhead transcription factor, plays a pivotal role in the ovarian development of aquatic species. However, the biological function of Foxl2 in Cherax quadricarinatus remains underexplored. In this study, the full-length cDNA of Cq-Foxl2, comprising 2,325 bp, was characterized, with a 1,695 bp open reading frame (ORF) encoding a protein of 564 amino acids. Bioinformatics analysis revealed that the predicted amino acid sequence of Cq-Foxl2 contained a conserved forkhead box domain, exhibiting high homology with other crustaceans, particularly Procambarus clarkii . qRT-PCR analysis indicated that Cq-Foxl2 was predominantly expressed in the ovary, with minimal detection in other tissues. Expression levels of Cq-Foxl2 were abundant throughout different stages of ovarian development. Moreover, RNAi-mediated silencing of Cq-Foxl2 led to a significant reduction in the transcription of Cq-Dsx and a decrease in the gonadosomatic index of female C. quadricarinatus . These findings offer essential insights for further exploration of the role of Cq-Foxl2 in ovarian development.

Early Temporal Dynamics of Gonadal Development and Sexually Dimorphic Gene Expression During Sex Differentiation in Mandarin Fish (Siniperca chuatsi)

2025-06-16

Yi Rong , Yuanyuan Wang , Jinzhi Zhao +7 more | Marine Biotechnology

<scp>H3K9me3</scp> Involved in <scp>FOXL2</scp> Regulation of <scp>SerpinE2</scp> Expression to Affect Steroid Hormone Synthesis in Follicular Granulosa Cells

2025-06-13

Yan-Yan Yang , Chenqi Yu , Yu Pan +6 more | The FASEB Journal

ABSTRACT Serine protease inhibitor E2 (SerpinE2), a serine protease inhibitor predominantly expressed in ovarian granulosa cells (GCs), plays a critical role in follicular development and ovulation in mammals. However, its … ABSTRACT Serine protease inhibitor E2 (SerpinE2), a serine protease inhibitor predominantly expressed in ovarian granulosa cells (GCs), plays a critical role in follicular development and ovulation in mammals. However, its exact role and underlying mechanisms remain unclear. In this study, we used buffalo GCs as a research model to investigate both the effects of SerpinE2 on GCs function and the mechanisms governing its expression. RT‐qPCR analysis revealed that SerpinE2 expression was significantly higher in healthy follicles (HFs) compared to atretic follicles (AFs). Through comprehensive functional assays (CCK‐8, EDU, flow cytometry and ELISA), we demonstrated that SerpinE2 promotes GCs proliferation, enhances steroidogenesis (progesterone and estradiol), and suppresses apoptosis. Mechanistically, dual‐luciferase reporter assays confirmed FOXL2 as a direct transcriptional activator of SerpinE2, with FOXL2 overexpression significantly enhancing both SerpinE2 expression and its steroidogenic effects. Additionally, Western blot analysis demonstrated that H3K9 methylation levels were significantly increased in AFs and FOXL2 knockdown GCs. CUT&RUN‐qPCR further demonstrated that H3K9me3 was highly enriched in the promoter regions of SerpinE2 in AFs and FOXL2 knockdown GCs, leading to reduced SerpinE2 expression. These findings suggest that SerpinE2 promotes steroid hormone synthesis in GCs in a FOXL2‐dependent manner; H3K9me3 is directly involved in FOXL2‐mediated regulation of SerpinE2 transcription in GCs. This study provides new insights into the molecular mechanisms by which SerpinE2 regulates mammalian follicular development.

ZNF280AY: A Pseudogene on the Ovine Y Chromosome and Its Copy Number Variation (CNV) Associated with Testicular Size in Hu Sheep

2025-06-13

Yangkai Liu , Li Wang , Jialei Chen +4 more | Journal of Animal Science

Abstract Y-chromosome gene copy number variations (CNV) are closely associated with testicular development and male fertility. ZNF280AY, originating from the transposition of the ZNF280A gene, has been identified as a … Abstract Y-chromosome gene copy number variations (CNV) are closely associated with testicular development and male fertility. ZNF280AY, originating from the transposition of the ZNF280A gene, has been identified as a multicopy gene in the male-specific region of the Y chromosome within the Bovidae family. However, the genomic structure of ZNF280AY and its impact on male fertility through CNV remain poorly characterized. Our study revealed that ZNF280AY exhibits pseudogene characteristics in sheep, as evidenced by disrupted coding sequences and the absence of mRNA expression across seven somatic tissues (heart, liver, spleen, lung, kidney, testes, muscle) at 6 months of age. The absence of expression was further found at various developmental stages (0-12 months). Comparative genomic analysis confirmed sequence homology (&gt;88%) with bovine orthologs, while structural divergence supports its pseudogenization trajectory. Large-scale qPCR analysis of 723 rams from eight breeds revealed substantial CNV (15-122 copies, median=42), with significant negative correlations between ZNF280AY copy number and testicular morphometric parameters (left testicular length: r = −0.096, P = 0.044; left testicular width: r = −0.112, P = 0.020; right testicular length: r = −0.136, P = 0.005). These findings establish ZNF280AY CNV as a novel molecular marker for ram testicular development evaluation, providing critical insights for marker-assisted selection in sheep breeding programs.

Correlation Analysis of Sperm Cryopreservation Quality with Serum Testosterone and Sperm gDNA Methylation Levels in Xiaoshan Chickens

2025-06-13

Xue Du , Duoxi Li , Lifeng Jia +5 more | Animals

Chicken semen cryopreservation is crucial for utilizing high-quality cockerel genetics, but semen is highly sensitive to cryoinjury, leading to poor preservation outcomes. This study aimed to establish a theoretical foundation … Chicken semen cryopreservation is crucial for utilizing high-quality cockerel genetics, but semen is highly sensitive to cryoinjury, leading to poor preservation outcomes. This study aimed to establish a theoretical foundation for selecting cockerels for semen cryopreservation through serum testing and to improve semen quality via DNA methylation editing. Semen and serum samples were collected from 102 Xiaoshan cockerels, with semen cryopreserved and thawed following standardized protocols. Post-thaw semen quality and serum testosterone (T) levels were assessed. Eight cockerels were selected based on motile sperm quality, and whole-genome bisulfite sequencing (WGBS) was used to analyze sperm DNA methylation. The results showed a significant positive correlation between serum T levels and sperm motility. There were notable differences in sperm motility and serum T levels between high-quality and low-quality semen groups but no differences in estradiol (E2), superoxide dismutase (SOD), or glutathione peroxidase (GSH-Px) levels. A total of 217 differentially methylated regions (DMRs) and 116 differentially methylated genes (DMGs) were identified. Key genes such as PRKACB (protein kinase, cAMP-dependent, catalytic, beta) and ACSL1 (long-chain-fatty-acid--CoA ligase 1) were associated with sperm motility. These findings provide important insights for improving semen cryopreservation and contribute to breeding practices and the development of cryoprotectants.

Construction and mechanism analysis of the sex reversal model of chicken gonadal somatic cells

2025-06-12

Xiaoqian Lv , Qiang Wei , Xin Liu +6 more | Poultry Science

Correction to: Optimizing Y-chromosome microdeletion screening in Chinese male infertility patients: a large-scale multi-centre study on incidence

2025-06-07

| Human Reproduction

Cathepsin D mediates tachykinin-induced secondary follicle growth independent of the hypothalamic–pituitary–gonadal axis in mice

2025-06-05

Tsuyoshi Kawada , Masato Aoyama , Keiko Yasuda +1 more | Frontiers in Endocrinology

Background Cathepsin D is an aspartic protease responsible for the proteolytic processing of vitellogenin at the early stages of folliculogenesis in oviparous vertebrates. Previously, we identified a multifunctional neuropeptide, tachykinin … Background Cathepsin D is an aspartic protease responsible for the proteolytic processing of vitellogenin at the early stages of folliculogenesis in oviparous vertebrates. Previously, we identified a multifunctional neuropeptide, tachykinin (TK), as an inducer of cathepsin D that promotes vitellogenic follicle growth in the ascidian Ciona intestinalis type A ( Ciona robusta ), a sister group of vertebrates. However, no regulatory factor for cathepsin D in the ovary has been identified in vertebrates. Moreover, the involvement of cathepsin D in mammalian folliculogenesis has yet to be investigated. Methods Ovaries of 2-week-old ICR mice were used. Cathepsin D gene expression in the ovaries was examined by real-time PCR. Localization of cathepsin D was shown by immunostaining of ovarian sections. Cathepsin D activity was measured using supernatants from the homogenized ovaries. Mouse follicle growth was evaluated using three-dimensional follicle culture system. Results Immunohistochemical analysis revealed that cathepsin D is co-localized with TK receptors in granulosa cells of secondary follicles in the ovaries of two-week-old mice, which are sexually immature and in which the hypothalamus–pituitary–gonadal (HPG) axis is not yet functional. TK treatment of the ovaries significantly increased cathepsin D gene expression and its proteolytic activity. Moreover, inhibition of cathepsin D markedly suppressed the secondary follicle growth. Conclusion Collectively, these results indicate that cathepsin D plays essential roles in mouse secondary follicle growth. Recently, we also demonstrated that ovarian TKs promote secondary follicle growth in mice, primarily in a paracrine/autocrine manner. Combined with these findings, the present study leads us to propose an evolutionary scenario in which TK–cathepsin D signaling functions as a conserved mechanism for HPG axis-independent follicle growth across chordates, which may be more broadly conserved than the vertebrate-specific, HPG axis-dependent systems.

Development and validation of sex-associated markers using whole-genome re-sequencing in frog Quasipaa spinosa

2025-06-02

Liaoruilin Zhang , Juan Li , Xiang Li +7 more | Frontiers in Genetics

The development of sex markers is crucial for addressing monosexual breeding in aquaculture species and for identifying traits that are sexually inherited, especially for elucidating the mechanisms of sex determination … The development of sex markers is crucial for addressing monosexual breeding in aquaculture species and for identifying traits that are sexually inherited, especially for elucidating the mechanisms of sex determination in amphibians. In aquaculture, comprehending sex determination is especially vital because the market value of animal products frequently depends on their sex. Quasipaa spinosa (Anura, Dicroglossidea) is a valuable frog species in the aquaculture industry of China and southeast Asia, yet there exists limited genomic information regarding this organism. Current data indicates that the adoption of all-male breeding techniques in Q. spinosa could substantially benefit the Chinese aquaculture industry, both by augmenting its economic prospects and by ensuring the effectiveness of wildlife reintroduction efforts. The growth rate, adult size, disease resistance, and other traits of male Q. spinosa surpass those of females, making the development of all-male breeding a significant focus in the Q. spinosa aquaculture industry. Therefore, it is imperative to establish a marker specific to males. In this research, we used the male Q. spinosa genome as reference and performed whole-genome resequencing on 30 males and 30 females. Subsequently, we exhibited evident sexual differentiation on chromosome 3 and primers were designed for PCR detection of the identified candidate male INDEL loci. Ultimately, two sex-associated INDELs that could be effectively detected were obtained and validated on the samples collected from the remaining three locations, thereby confirming the robustness of these two INDELs for sex identification in Q. spinosa.