Sexual Development最新文献

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Metabolic Control of Germline Formation and Differentiation in Mammals. 哺乳动物生殖细胞形成和分化的代谢控制
IF 2.4 4区 医学
Sexual Development Pub Date : 2022-01-01 Epub Date: 2022-01-27 DOI: 10.1159/000520662
Yohei Hayashi, Yasuhisa Matsui
{"title":"Metabolic Control of Germline Formation and Differentiation in Mammals.","authors":"Yohei Hayashi, Yasuhisa Matsui","doi":"10.1159/000520662","DOIUrl":"10.1159/000520662","url":null,"abstract":"<p><strong>Background: </strong>The germ cell lineage involves dynamic epigenetic changes during its formation and differentiation that are completely different from those of the somatic cell lineage. Metabolites and metabolic pathways have been reported as key factors related to the regulation of epigenetics as cofactors and substrates. However, our knowledge about the metabolic characteristics of germ cells, especially during the fetal stage, and their transition during differentiation is quite limited due to the rarity of the cells. Nevertheless, recent developments in omics technologies have made it possible to extract comprehensive metabolomic features of germ cells.</p><p><strong>Summary: </strong>In this review, we present the latest researches on the metabolic properties of germ cells in 4 stages: primordial germ cell specification, fetal germ cell differentiation, spermatogenesis, and oogenesis. At every stage, extensive published data has been accumulated on energy metabolism, and it is possible to describe its changes during germ cell differentiation in detail. As pluripotent stem cells differentiate into germ cells, energy metabolism shifts from glycolysis to oxidative phosphorylation; however, in spermatogenesis, glycolytic pathways are also temporarily dominant in spermatogonial stem cells. Although the significance of metabolic pathways other than energy metabolism in germ cell differentiation is largely unknown, the relation of the pentose phosphate pathway and Ser-Gly-one-carbon metabolism with germ cell properties has been suggested at various stages. We further discuss the relationship between these characteristic metabolic pathways and epigenetic regulation during germ cell specification and differentiation. Finally, the relevance of dietary and supplemental interventions on germ cell function and epigenomic regulation is also discussed.</p><p><strong>Key messages: </strong>Comprehensive elucidation of metabolic features and metabolism-epigenome crosstalk in germ cells is important to reveal how the characteristic metabolic pathways are involved in the germ cell regulation. The accumulation of such insights would lead to suggestions for optimal diets and supplements to maintain reproductive health through modulating metabolic and epigenetic status of germ cells.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 5-6","pages":"388-403"},"PeriodicalIF":2.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10389803/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9913213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development? 非编码NR5A1基因变异能否解释性发育障碍的表型?
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 DOI: 10.1159/000524956
Helena Fabbri-Scallet, Ralf Werner, Mara S Guaragna, Juliana G R de Andrade, Andrea T Maciel-Guerra, Nadine C Hornig, Olaf Hiort, Gil Guerra-Júnior, Maricilda P de Mello
{"title":"Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?","authors":"Helena Fabbri-Scallet,&nbsp;Ralf Werner,&nbsp;Mara S Guaragna,&nbsp;Juliana G R de Andrade,&nbsp;Andrea T Maciel-Guerra,&nbsp;Nadine C Hornig,&nbsp;Olaf Hiort,&nbsp;Gil Guerra-Júnior,&nbsp;Maricilda P de Mello","doi":"10.1159/000524956","DOIUrl":"https://doi.org/10.1159/000524956","url":null,"abstract":"<p><strong>Introduction: </strong>NR5A1 is an essential transcription factor that regulates several target genes involved in reproduction and endocrine function. Pathogenic variants in this gene are responsible for a wide spectrum of disorders/differences of sex development (DSD).</p><p><strong>Methods: </strong>The molecular study involved Sanger sequencing, in vitro assays, and whole exome sequencing (WES).</p><p><strong>Results: </strong>Four variants were identified within the NR5A1 non-coding region in 3 patients with 46,XY DSD. In vitro analyses showed that promoter activity was affected in all cases. WES revealed variants in SRA1, WWOX, and WDR11 genes.</p><p><strong>Discussion/conclusion: </strong>Evaluation of clinical and phenotypic significance of variants located in a non-coding region of a gene can be complex, and little is known regarding their association with DSD. Nevertheless, based on the important region for interaction with cofactors essential to promote appropriated sex development and on our in vitro results, it is feasible to say that an impact on gene expression can be expected and that this may be correlated with the DSD pathophysiology presented in our patients. Considering the number of cases that remain elusive after screening for the well-known DSD related genes, we emphasize the importance of a careful molecular analysis of NR5A1 non-coding region which is commonly neglected and might explain some idiopathic DSD cases.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 4","pages":"252-260"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10789410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis. 与46,xy性腺发育不良相关的Hedgehog酰基转移酶(HHAT)基因纯合错义变异。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 DOI: 10.1159/000520366
Inas Mazen, Alaa Kamel, Kenneth McElreavey, Anu Bashamboo, Aya Elaidy, Mohamed S Abdel-Hamid
{"title":"A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.","authors":"Inas Mazen,&nbsp;Alaa Kamel,&nbsp;Kenneth McElreavey,&nbsp;Anu Bashamboo,&nbsp;Aya Elaidy,&nbsp;Mohamed S Abdel-Hamid","doi":"10.1159/000520366","DOIUrl":"https://doi.org/10.1159/000520366","url":null,"abstract":"<p><strong>Introduction: </strong>Disorders of gonadal development represent a clinically and genetically heterogeneous group of DSD, and the etiology in many cases remains unknown, indicating that our knowledge of factors controlling sex determination is still limited.</p><p><strong>Methods: </strong>We describe a 46,XY DSD patient from Egypt. The patient was reared as female, born to consanguineous parents, and was referred to us at the age of 5 years because of ambiguous genitalia. On examination, the girl was microcephalic (head circumference -3 SD), but her height and weight were normal for her age and sex.</p><p><strong>Results: </strong>Exome sequencing identified a homozygous variant in the hedgehog acyltransferase (HHAT) gene, which encodes an enzyme that is required for multimerization and signaling potency of the hedgehog secreted proteins. The variant is a novel homozygous missense change c.1329C>A (p.N443K), located within transmembrane domain 9, which segregated with the phenotype in the family.</p><p><strong>Discussion/conclusion: </strong>Our results expand the phenotypic spectrum associated with HHAT variants to include 46,XY gonadal dysgenesis and reinforce the role of exome sequencing in unraveling new genes that play a pivotal role in sexual development.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 4","pages":"261-265"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10729652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Can Boys Have Turner Syndrome? More than a Question of Semantics. 男孩会得特纳综合症吗?不仅仅是语义学的问题。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 Epub Date: 2021-08-10 DOI: 10.1159/000518092
Michelle M Knoll, Julie Strickland, Jill D Jacobson
{"title":"Can Boys Have Turner Syndrome? More than a Question of Semantics.","authors":"Michelle M Knoll,&nbsp;Julie Strickland,&nbsp;Jill D Jacobson","doi":"10.1159/000518092","DOIUrl":"https://doi.org/10.1159/000518092","url":null,"abstract":"<p><p>Individuals with 45,X mosaicism with Y chromosome material raised as boys are not diagnosed with Turner syndrome, a label restricted to phenotypic females. We sought to determine if boys with 45,X mosaicism had features consistent with Turner syndrome. Twenty-two patients (14 girls, 8 boys) seen in our Differences of Sex Development (DSD) clinic were identified for review. Standardized height (z-scores) by sex of rearing and results of cardiology, renal, audiology, thyroid, and celiac screenings were recorded. All subjects had heights below the mean for sex. Z-scores were not significantly different between boys and girls (p = 0.185). There were no significant differences in the incidence of cardiac anomalies between boys and girls (p = 0.08). Girls were more likely to have additional screenings (p = 0.042), but there were no significant differences in the number of positive screenings between boys and girls (p = 0.332). Patients with 45,X mosaicism raised as boys appear to have features similar to patients with the same karyotype raised as girls. Routine screening of boys following the Turner Syndrome Clinical Practice Guidelines may allow early recognition of comorbidities. Additionally, obtaining karyotypes on boys with short stature or other features of Turner syndrome may identify unrecognized cases of 45,X mosaicism.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 1","pages":"19-26"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39412301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Creation of an Electronic Resource Repository for Differences of Sex Development (DSD): Collaboration Between Advocates and Clinicians in the DSD-Translational Research Network. 性别发展差异(DSD)电子资源库的创建:DSD转化研究网络中倡导者和临床医生之间的合作。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 DOI: 10.1159/000524629
Meilan M Rutter, Miriam Muscarella, Janet Green, Gnendy Indig, Alexandra von Klan, Kimberly Kennedy, Erica M Weidler, Margaret Barrett, David E Sandberg
{"title":"Creation of an Electronic Resource Repository for Differences of Sex Development (DSD): Collaboration Between Advocates and Clinicians in the DSD-Translational Research Network.","authors":"Meilan M Rutter,&nbsp;Miriam Muscarella,&nbsp;Janet Green,&nbsp;Gnendy Indig,&nbsp;Alexandra von Klan,&nbsp;Kimberly Kennedy,&nbsp;Erica M Weidler,&nbsp;Margaret Barrett,&nbsp;David E Sandberg","doi":"10.1159/000524629","DOIUrl":"https://doi.org/10.1159/000524629","url":null,"abstract":"<p><strong>Introduction: </strong>People with differences of sex development (DSD) and their families need education about these conditions while receiving emotional and peer support to participate in shared decision-making, reduce social isolation, and optimize physical and psychosocial outcomes. Barriers to education and support include limited knowledge and awareness by healthcare providers, tension among patient and medical communities, varied quality of educational resources, and the sensitive nature of DSD. We aimed to create an electronic repository of vetted quality online resources about DSD.</p><p><strong>Methods: </strong>The electronic resource repository (e-RR) was a collaboration between affected individuals and advocates and healthcare providers in the DSD-Translational Research Network (DSD-TRN), an NIH-supported consortium of US teams committed to standardizing and optimizing care in DSD. The e-RR development and ongoing growth involved: (1) identification of resources by the project team (3 advocates and 1 physician), (2) evaluation and feedback by DSD-TRN clinical teams, (3) creation of the e-RR, and (4) review and revision. Twitter-like descriptions accompanied each entry; resources were categorized by target age, audience, and condition.</p><p><strong>Results: </strong>Thirty-seven web-based educational, peer and advocacy support, and clinician-oriented resources were reviewed. Eight of 10 DSD-TRN teams responded to a survey regarding resource inclusion. Awareness of individual resources varied widely. Consensus was achieved when opinions differed; 30 resources were included. The e-RR is available online and as a downloadable booklet at http://www.accordalliance.org/resource-guide/.</p><p><strong>Conclusion: </strong>The e-RR increases awareness of and access to vetted educational and support resources for those with DSD and healthcare providers. It represents important collaboration between advocates and providers.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 4","pages":"227-235"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9708931/pdf/nihms-1801211.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9912833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting. 3β-羟基类固醇脱氢酶2型(3βHSD2)缺乏是由错义突变(p.Thr259Met)和移码缺失(p.Lys273ArgFs*7)引起的。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 Epub Date: 2021-10-08 DOI: 10.1159/000519062
Sofia Leka-Emiri, Ludmia Taibi, Vasiliki Mavroeidi, Elpis A Vlachopapadopoulou, Maria Kafetzi, Stefanos Michalacos, Nicolas de Roux
{"title":"3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting.","authors":"Sofia Leka-Emiri,&nbsp;Ludmia Taibi,&nbsp;Vasiliki Mavroeidi,&nbsp;Elpis A Vlachopapadopoulou,&nbsp;Maria Kafetzi,&nbsp;Stefanos Michalacos,&nbsp;Nicolas de Roux","doi":"10.1159/000519062","DOIUrl":"https://doi.org/10.1159/000519062","url":null,"abstract":"<p><p>Deficiency of 3β-hydroxysteroid dehydrogenase type 2 (3βHSD2) is a rare type of congenital adrenal hyperplasia (CAH), causing impaired steroid hormone production in both adrenals and gonads. Phenotype ranges, according to the genetic defect, from the salt-wasting form in both sexes to undervirilization in males and virilization in females. We present a 13-month-old male infant who was admitted to the hospital with signs of adrenocortical insufficiency and genital ambiguity. Clinical presentation, hormonal profile, laboratory evaluation, and karyotype were suggestive of the salt-wasting form of CAH due to 3βHSD2 deficiency. Mutational analysis revealed a missense mutation c.776C>T (p.Thr259Met), inherited by the mother, and a frameshift deletion c.818-819delAA (p.Lys273ArgFs*7), inherited by the father. Both mutations are considered pathogenic. To our knowledge this is the first case of an undervirilized male infant with salt wasting bearing this pathogenic frameshift deletion p.Lys273ArgFs*7 in compound heterozygosity with the missense mutation p.Thr259Met.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 1","pages":"64-69"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39501018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Erratum. 勘误表。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 Epub Date: 2021-12-21 DOI: 10.1159/000521500
{"title":"Erratum.","authors":"","doi":"10.1159/000521500","DOIUrl":"https://doi.org/10.1159/000521500","url":null,"abstract":"The author had thought that subjects experience flickering when they saw the world through it, but found that the subjects in fact do not experience flickering with this system: “Temporal Multiplexing is compatible with the physical limits of TLs and with the perceptual limits of the subjects. Measurements of the DTSF [Defocus Temporal Sensitivity Function] in subjects revealed that defocus variations at frequencies >40 Hz are not perceived. This bandwidth can be achieved by commercial TLs allowing multifocal visual simulators free of temporal artifacts” (Dorronsoro C, et al. IOVS 2019;60:ARVO E-Abstract 6465).","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 1","pages":"71"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39746061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of Self-Fertilizing Hermaphroditic Fish from Gonochoristic Fish, Medaka (Oryzias latipes). 墨达卡(Oryzias latipes) Gonochoristic Fish的自交受精雌雄同体鱼的产生。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 DOI: 10.1159/000526073
Toshiya Nishimura, Minoru Tanaka
{"title":"Generation of Self-Fertilizing Hermaphroditic Fish from Gonochoristic Fish, Medaka (Oryzias latipes).","authors":"Toshiya Nishimura,&nbsp;Minoru Tanaka","doi":"10.1159/000526073","DOIUrl":"https://doi.org/10.1159/000526073","url":null,"abstract":"<p><strong>Introduction: </strong>Hermaphroditism is a mode of reproduction involving an individual animal that possesses both a testis and an ovary either sequentially or simultaneously. The mechanism creating hermaphrodites remains unknown. Previously, we identified foxl3 as the germline sex determination gene in a gonochoristic fish, medaka (Oryzias latipes). foxl3 loss-of-function (foxl3-/-) females produce functional sperm as well as eggs in the ovary. However, these two gametes are not self-fertilizing because of the histological separation of each gamete production. In this study, we attempted to generate self-fertilizing medaka from female medaka by modifying germline sex using foxl3-/- mutants and by using exogenous androgen to induce partial sex reversal of somatic cells.</p><p><strong>Methods: </strong>foxl3-/- XX females were treated with 11-ketotestosterone (11-KT), a potent teleost fish androgen, at the sexually mature stage for 30 days (90-120 dph). Then, the fish were kept under normal conditions until they were either being dissected or crossed with infertile males.</p><p><strong>Results and discussion: </strong>We showed that the foxl3-/- XX female medaka can be transformed into a self-fertilizing hermaphrodite by inducing the formation of a male-like structure with exogenous 11-KT. Self-fertilization occurs in either the ovarian cavity, the oviduct, or both where sperm is released from a tubule-like structure which is likely derived from germinal epithelium, suggesting that timely modification of 2 independent mechanisms, regulation of germline sex and partial sex reversal of somatic cells, are critical to change the reproduction mode. Our results will provide insights in developmental and evolutional occurrence of hermaphrodite vertebrates, facilitate an innovative technique to improve the efficient selection of fish with desirable traits, and contribute to the rescue of endangered species.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 4","pages":"283-288"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9300784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Germ Cell Development and Sex Differentiation. 生殖细胞发育和性别分化。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 DOI: 10.1159/000530361
Minoru Tanaka, Katsuhiko Hayashi
{"title":"Germ Cell Development and Sex Differentiation.","authors":"Minoru Tanaka,&nbsp;Katsuhiko Hayashi","doi":"10.1159/000530361","DOIUrl":"https://doi.org/10.1159/000530361","url":null,"abstract":"It is our great pleasure to have been able to publish cutting-edge monographs written by leaders of germ cell studies. Currently, a tremendous number of studies on germ cells can be read in the scientific journals of many fields. At this timing, it would be good to recall that the germ cell studies on early days conceived an issue of sexual fate [McClung, 1902; Stevens, 1905]. Behavior of a curious chromosome during meiosis led to the recognition of sex chromosome and of development of sexually two different gametes. The modern studies of germ cells began with addressing the timing of sexual fate decision of germ cells to develop into eggs or sperm [Burgoyne et al., 1988; McLaren, 1988]. These were done by a group of Dr. McLaren in 1988, more than 30 years ago before the first identification of the sex determination gene, Sry [Sinclair et al., 1990]. In the studies, XY germ cells isolated from mouse embryos were transplanted in XX body and vice versa. Since then, the germ cell studies have been prosperous at the levels of molecular and cellular mechanism. Recently in relation with stem cell biology, it is getting relevant to understand how germline stem cells leave the state of stemness and commit to either oogenesis and spermatogenesis. This stems a modern understanding of the sexual fate decision of germ cells [Spiller et al., 2017]. This issue will provide a current view of mechanisms of germ cell sexual fate decision. Germ cells in mammals have a sexually asymmetric feature, development of germline stem cells in male gonad but no germline stem cells defined in female gonad [Zhang et al., 2015]. This is different from other vertebrate species and shows that germ cells in mammals are not everything. In this context, germ cell studies in Drosophila and Nematoda (and other vertebrates) have been complementary to mammals and giving a deep insight on an essential nature of germ cells. In addition to the two chapters of Drosophila and Nematoda, the other chapters constitute different aspects of mechanisms underlying sexual fate of germ cells and describe the recent progress in mammals. These include signal transduction, cellular interaction, epigenetic regulation, recombination, and metabolism. In these chapters, the audience would recognize the detailed mechanisms analyzed by development of sophisticated techniques with big data. The editors believe that this special issue represents current trends of germ cell studies and will chart a scientific path in this field. Minoru Tanaka Nagoya University, Nagoya, Japan Katsuhiko Hayashi Osaka University, Suita, Japan","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 5-6","pages":"303-304"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9795049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Instructing Mouse Germ Cells to Adopt a Female Fate. 引导小鼠生殖细胞接受雌性命运。
IF 2.3 4区 医学
Sexual Development Pub Date : 2022-01-01 DOI: 10.1159/000523763
Cassy Spiller, Josephine Bowles
{"title":"Instructing Mouse Germ Cells to Adopt a Female Fate.","authors":"Cassy Spiller,&nbsp;Josephine Bowles","doi":"10.1159/000523763","DOIUrl":"https://doi.org/10.1159/000523763","url":null,"abstract":"<p><strong>Background: </strong>Germ cells are critical for the survival of our species. They are the only cells that undergo meiosis - the reductive form of cell division that is necessary for genetic reassortment of chromosomes and production of the haploid gametes, the sperm and eggs. Remarkably, the initial female/male fate decision in fetal germ cells does not depend on whether they are chromosomally XX or XY; rather, initial sexual fate is imposed by influences from the surrounding tissue. In mammals, the female germline is particularly precious: despite recent suggestions that germline stem cells exist in the ovary, it is still generally accepted that the ovarian reserve is finite, and its size is dependant on germ cells of the fetal ovary initiating meiosis in a timely manner.</p><p><strong>Summary: </strong>Prior to 2006, evidence suggested that gonadal germ cells initiate meiotic prophase I by default, but more recent data support a key role for the signalling molecule retinoic acid (RA) in instructing female germ cell fate. Newer findings also support a key meiosis-inducing role for another signalling molecule, bone morphogenic protein (BMP). Nonetheless, many questions remain.</p><p><strong>Key messages: </strong>Here, we review knowledge thus far regarding extrinsic and intrinsic determinants of a female germ cell fate, focusing on the mouse model.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":"16 5-6","pages":"342-354"},"PeriodicalIF":2.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9784210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
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