Sexual Development最新文献

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Maternal Microchimerism Is Uncommon in Patients with Hypospadias. 母源微嵌合在尿道下裂患者中并不常见。
IF 2.4 4区 医学
Sexual Development Pub Date : 2025-01-01 Epub Date: 2025-10-27 DOI: 10.1159/000549218
Yuki Muranishi, Yuko Katoh-Fukui, Masafumi Kon, Nobuhiko Koga, Satoshi Tamaoka, Atsushi Hattori, Nobuo Shinohara, Takashige Abe, Maki Fukami
{"title":"Maternal Microchimerism Is Uncommon in Patients with Hypospadias.","authors":"Yuki Muranishi, Yuko Katoh-Fukui, Masafumi Kon, Nobuhiko Koga, Satoshi Tamaoka, Atsushi Hattori, Nobuo Shinohara, Takashige Abe, Maki Fukami","doi":"10.1159/000549218","DOIUrl":"10.1159/000549218","url":null,"abstract":"<p><p><p>Introduction: Although maternal microchimerism has been implicated in various disorders in children, its association with the risk of 46,XY disorders of sex development remains unknown.</p><p><strong>Methods: </strong>We studied 22 boys with hypospadias using highly sensitive quantitative PCR assays. In seven cases with additional anomalies, microarray-based comparative genomic hybridization and whole-exome sequencing confirmed the lack of apparent pathogenic variants.</p><p><strong>Results: </strong>Maternal microchimeric cells were detected in 2 patients (1.9 and 32.0 cells per 106 total cells). The results were comparable to our reference data.</p><p><strong>Conclusion: </strong>This study argues against the significant role of maternal microchimerism in the risk of hypospadias. </p>.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"51-55"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12659656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145394737","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
Rare Genetic Variants of Cell Adhesion Molecules in Transgender Men Suggest a Potential Role in Gender Dysphoria. 变性男性细胞粘附分子的罕见遗传变异提示性别焦虑的潜在作用。
IF 2.4 4区 医学
Sexual Development Pub Date : 2025-01-01 Epub Date: 2025-11-07 DOI: 10.1159/000549011
Duygu Onur Cura, Tufan Çankaya, Özden Altiok Clark, Leyla Rezan Aydin, Ahmet Okay Çağlayan, Ayfer Ülgenalp
{"title":"Rare Genetic Variants of Cell Adhesion Molecules in Transgender Men Suggest a Potential Role in Gender Dysphoria.","authors":"Duygu Onur Cura, Tufan Çankaya, Özden Altiok Clark, Leyla Rezan Aydin, Ahmet Okay Çağlayan, Ayfer Ülgenalp","doi":"10.1159/000549011","DOIUrl":"10.1159/000549011","url":null,"abstract":"<p><p><p>Introduction: Transgender identity is a complex and multifactorial condition shaped by the effects of environmental and cultural factors as well as its biological basis. Genes involved in neurodevelopment and neuroplasticity may contribute to brain sexual differentiation, and rare variants in these genes could play a role in gender diversity. This study aimed to enhance explanations for the genetic component of transgender identity.</p><p><strong>Methods: </strong>After the filtering process applied to the WES analysis data obtained from eight transgender men (TM), the gene list was generated. Previously reported genes were scanned in the gene list with a detailed literature review and data mining. Functional enrichment, protein classification, pathway, and genetic interaction network analysis were performed to determine the salient genes.</p><p><strong>Results: </strong>A total of 30 variants were detected in 18 genes reported in the literature. The rs879121178 (GOLGA8J) variant, previously reported in 1 TW (transgender woman) and 1 TM, and the rs548940626 (PCDHA8) variant, previously reported in 1 TW, were present in two different individuals (individuals 5 and 6, respectively). In the functional enrichment analysis, the highest enrichment score in biological processes was detected in the cluster related to cell adhesion (enrichment score: 12.91) and the most enriched term was \"homophilic cell adhesion via plasma membrane adhesion molecules\" with 54 genes (p: 3.1E-11).</p><p><strong>Conclusions: </strong>Our study shows that rare variants in cell adhesion genes, previously reported in TW, are also prominent in TM. These findings may help guide further investigations into genes that could be relevant to neurodevelopmental pathways, including those involved in brain sexual differentiation. </p>.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"56-63"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12674652/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145483423","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
Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a SEMA3E Loss-of-Function Variant. 双侧睾丸退化综合征和视神经萎缩:儿童SEMA3E功能丧失变异的临床表现。
IF 2.4 4区 医学
Sexual Development Pub Date : 2025-01-01 Epub Date: 2025-11-13 DOI: 10.1159/000549385
Somboon Wankanit, Maëva Elzaiat, Estelle Talouarn, Laurène Schlick, Anu Bashamboo, Ken McElreavey, Raja Brauner
{"title":"Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a <italic>SEMA3E</italic> Loss-of-Function Variant.","authors":"Somboon Wankanit, Maëva Elzaiat, Estelle Talouarn, Laurène Schlick, Anu Bashamboo, Ken McElreavey, Raja Brauner","doi":"10.1159/000549385","DOIUrl":"10.1159/000549385","url":null,"abstract":"<p><p><p>Introduction: SEMA3E is a secreted class 3 semaphorin that, in mice, plays roles in neuronal guidance, cardiovascular morphogenesis, angiogenesis, and vascular homeostasis. Adult male mice lacking SEMA3E exhibit reduced testicular size compared to wild-type littermates, indicating a potential role in reproductive function. In humans, heterozygous missense variants in SEMA3E were initially reported to be associated with CHARGE syndrome and hypogonadotropic hypogonadism with anosmia. However, these associations have since been questioned, and the contribution of SEMA3E variants to human disease is unclear.</p><p><strong>Methods: </strong>We describe the results of exome sequencing of a 46,XY boy with unexplained bilateral testicular regression syndrome and optic nerve atrophy.</p><p><strong>Results: </strong>Exome sequencing indicates that he carries a heterozygous frameshift variant (c.942del, p.Leu314PheTer11) in the SEMA3E gene. The variant is located within the functional SEMA domain of the protein and is predicted to trigger nonsense-mediated mRNA decay. This is the second reported loss-of-function (LoF) variant in the highly conserved SEMA3E gene. A previously described LoF variant was identified in a child presenting with severe intellectual disability and cognitive regression.</p><p><strong>Conclusion: </strong>LoF SEMA3E variants may be associated with a broad and variable spectrum of clinical phenotypes. </p>.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"75-80"},"PeriodicalIF":2.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12685326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534944","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
Inhibiting p38α and -β MAPK Affects Testis Development in the Marsupial Tammar Wallaby. 抑制 p38α 和 β MAPK 会影响有袋类羚羊的睾丸发育。
IF 2.4 4区 医学
Sexual Development Pub Date : 2024-01-01 Epub Date: 2024-10-21 DOI: 10.1159/000541896
Monika R Paranjpe, Patrick G S Grady, Hongshi Yu, Andrew J Pask, Rachel J O'Neill, Geoff Shaw, Marilyn B Renfree
{"title":"Inhibiting p38α and -β MAPK Affects Testis Development in the Marsupial Tammar Wallaby.","authors":"Monika R Paranjpe, Patrick G S Grady, Hongshi Yu, Andrew J Pask, Rachel J O'Neill, Geoff Shaw, Marilyn B Renfree","doi":"10.1159/000541896","DOIUrl":"10.1159/000541896","url":null,"abstract":"<p><strong>Introduction: </strong>The MAPK genes are critical for gonadal differentiation in eutherian mammals, but their role in marsupial mammals is unknown. Characterisation and phylogenetic analyses of the tammar wallaby MAPK genes show these genes are highly conserved with their orthologues in mammalian and non-mammalian species.</p><p><strong>Methods: </strong>We cultured sexually indifferent tammar gonads in the presence of p38α and -β MAPK inhibitor, SB202190.</p><p><strong>Results: </strong>SB202190 downregulated SOX9 and AMH levels in XY-treated gonads when compared to controls, similar to the effects of oestrogen on the MAPK pathway in males. In contrast, XX gonads treated with the SB202190 inhibitor showed no change in mRNA expression between the control and treated gonads for any of the markers tested.</p><p><strong>Conclusions: </strong>This study confirms that components of the MAPK pathway drive testis differentiation via the key downstream genes SOX9 and AMH in marsupials as is observed in eutherian mammals.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"40-54"},"PeriodicalIF":2.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478981","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
An International Delphi-Based Study for Developing a Core Outcome Set for Hypospadias Surgery. 为尿道下裂手术制定核心结果集的国际德尔菲研究。
IF 2.4 4区 医学
Sexual Development Pub Date : 2024-01-01 Epub Date: 2025-01-18 DOI: 10.1159/000541596
Tina L Leunbach, Francisca Yankovic, Alexander Springer, Amy Wisniewski, Berk Burgu, Luis Braga, Andreas Ernst, Angela Lucas-Herald, Stuart O'Toole, S Faisal Ahmed, Yazan F Rawashdeh
{"title":"An International Delphi-Based Study for Developing a Core Outcome Set for Hypospadias Surgery.","authors":"Tina L Leunbach, Francisca Yankovic, Alexander Springer, Amy Wisniewski, Berk Burgu, Luis Braga, Andreas Ernst, Angela Lucas-Herald, Stuart O'Toole, S Faisal Ahmed, Yazan F Rawashdeh","doi":"10.1159/000541596","DOIUrl":"10.1159/000541596","url":null,"abstract":"<p><strong>Introduction: </strong>Explicit outcomes routinely measured across the life span following hypospadias surgery, defined by a core outcome set (COS), will harmonize and overcome reporting heterogeneity.</p><p><strong>Methods: </strong>Age-specific outcomes identified in a literature review were presented in a three-round Delphi survey. Participants (professionals, parents, and patients) were encouraged to suggest outcomes in the first Delphi round. In subsequent rounds, participants were asked to choose and rank up to five preferred outcomes for each age. To be deemed core, an outcome needed over 70% of votes in a round.</p><p><strong>Results: </strong>Professionals were mainly paediatric urologists (rounds 1, 2, 3: n = 57 [77%], 39 [78%], 35 [81%]). The response rates from parents/patients (rounds 1, 2, 3: n = 17, 5, 3) were low. In young boys (<6 years, 10-11 years), four core outcomes were identical (voiding, fistula, re-operation, and urethral stricture). Core outcomes in boys aged 11-16 years (cosmesis, curvature, voiding, stricture, and psychosocial status) and boys >16 years (cosmesis, curvature, erection, voiding, and psychosexual development) varied more.</p><p><strong>Conclusion: </strong>Outcomes to include in a COS were consistent in younger boys. A larger variety was observed in older boys and reflects less clarity on relevant outcomes.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"27-33"},"PeriodicalIF":2.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014912","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
One-Step Leaping Evolution from an Autosomal Pair to the Heteromorphic Sex Chromosomes. 从一对常染色体到异形性染色体的一步跳跃式进化。
IF 2.4 4区 医学
Sexual Development Pub Date : 2024-01-01 Epub Date: 2024-11-09 DOI: 10.1159/000542537
Ikuo Miura, Foyez Shams, Tariq Ezaz, Mitsuaki Ogata
{"title":"One-Step Leaping Evolution from an Autosomal Pair to the Heteromorphic Sex Chromosomes.","authors":"Ikuo Miura, Foyez Shams, Tariq Ezaz, Mitsuaki Ogata","doi":"10.1159/000542537","DOIUrl":"10.1159/000542537","url":null,"abstract":"<p><strong>Background: </strong>Sex chromosomes evolve from an autosomal pair after the acquisition of a sex-determining gene. The primary sex chromosomes are homomorphic in both sexes and often undergo heteromorphism in either sex (XY in males or ZW in females) in association with chromosome rearrangements such as inversion, which creates a non-recombining region, called a stratum. Then, multiple strata may form by sequential inversions and extend the non-recombining region, where gene divergence accelerates, and degeneration of the Y or W chromosome progressively occurs.</p><p><strong>Summary: </strong>In contrast to the conventional theory, we propose a shortcut in heteromorphic sex chromosome evolution, where an autosomal pair directly evolves into a heteromorphic sex chromosome pair. We illustrate this with two frog cases where Y chromosome or autosome, which is morphologically inverted, was introgressed from another species through interspecific hybridization, instantly forming a new heteromorphic sex chromosome pair. This event resulted in a distinct non-recombining region immediately after hybridization.</p><p><strong>Key messages: </strong>The introduction of an inverted chromosome from a different species may be associated with benefits in morphology, breeding behavior, hybrid viability, sex determination, and recovery of the sex ratio of the hybrids. We discuss the molecular mechanisms driving preferential mutations in the introduced, inverted chromosome through interspecific hybridization.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"61-69"},"PeriodicalIF":2.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631189","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
Repetitive DNA Mapping Reveals Multiple Sex Chromosomes X1X1X2X2/X1X2Y in Pseudotylosurus microps (Günther 1866) (Beloniformes, Teleostei) from the Amazon. 重复DNA定位揭示亚马逊地区Pseudotylosurus microps (g<e:1> nther 1866) (Beloniformes, Teleostei)的多重性染色体X1X1X2X2/X1X2Y。
IF 2.4 4区 医学
Sexual Development Pub Date : 2024-01-01 Epub Date: 2025-02-24 DOI: 10.1159/000544037
Erika Milena Corrêa Guimarães, Patrik Ferreira Viana, Vanessa Susan Pinheiro-Figliuolo, Leandro Marajó, José Francisco de Sousa E Souza, Eliana Feldberg
{"title":"Repetitive DNA Mapping Reveals Multiple Sex Chromosomes X1X1X2X2/X1X2Y in Pseudotylosurus microps (Günther 1866) (Beloniformes, Teleostei) from the Amazon.","authors":"Erika Milena Corrêa Guimarães, Patrik Ferreira Viana, Vanessa Susan Pinheiro-Figliuolo, Leandro Marajó, José Francisco de Sousa E Souza, Eliana Feldberg","doi":"10.1159/000544037","DOIUrl":"10.1159/000544037","url":null,"abstract":"<p><strong>Introduction: </strong>Needlefish (Belonidae family) comprises 44 known species distributed worldwide. These species are predominantly marine but include estuarine representatives and 12 freshwater species. Among the recognized species, 8 are endemic to South American rivers. Cytogenetic studies of Belonidae are scarce and mostly limited to describing the diploid chromosome number (2n) and karyotypic structure.</p><p><strong>Methods: </strong>We used classical and molecular cytogenetic markers to karyotypically characterize Pseudotylosurus microps to understand the evolutionary processes of Belonidae species in the Amazon basin.</p><p><strong>Results: </strong>P. microps exhibited different diploid numbers between males (2n = 47, 3m + 3sm + 41st/a FN = 53) and females (2n = 48, 4m + 4sm + 40st/a FN = 56). Our study revealed the first case of multiple sex chromosomes in the Belonidae family.</p><p><strong>Conclusion: </strong>These findings describe a multiple sex chromosome system of the type X1X1X2X2/X1X2Y. The C-banding pattern and 5S rDNA mapping suggest that this system likely resulted from a tandem fusion between a homolog of pair 1 and a homolog of pair 3, producing a large acrocentric Y chromosome. We propose that karyotypic changes due to internal chromosomal rearrangements, as observed in P. microps, can lead to species diversification and, in some cases, the emergence of a heteromorphic and multiple sex chromosome system.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"70-80"},"PeriodicalIF":2.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494512","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
Neonatal Hydrocolpos in Bardet-Biedl Syndrome due to a Novel Frameshift Indel in the BBS10 Gene. 由于 BBS10 基因中的一个新的框移嵌合体而导致的 Bardet-Biedl 综合征新生儿水肿。
IF 2.4 4区 医学
Sexual Development Pub Date : 2024-01-01 Epub Date: 2024-09-09 DOI: 10.1159/000541137
Maria Helena Palma Sircili, Rafael Loch Batista, Enoch Quindere de Sá Barreto, Solange Paiva Bueno, Anna Flávia Figueredo Benedetti, Flora Ladeira Craveiro, Raquel Matinez Ramos, Marcelo Praxedes Monteiro Filho, Sorahia Domenice, Berenice Bilharinho Mendonca, Francisco Tibor Dénes
{"title":"Neonatal Hydrocolpos in Bardet-Biedl Syndrome due to a Novel Frameshift Indel in the BBS10 Gene.","authors":"Maria Helena Palma Sircili, Rafael Loch Batista, Enoch Quindere de Sá Barreto, Solange Paiva Bueno, Anna Flávia Figueredo Benedetti, Flora Ladeira Craveiro, Raquel Matinez Ramos, Marcelo Praxedes Monteiro Filho, Sorahia Domenice, Berenice Bilharinho Mendonca, Francisco Tibor Dénes","doi":"10.1159/000541137","DOIUrl":"10.1159/000541137","url":null,"abstract":"<p><strong>Introduction: </strong>Hydrocolpos, a rare condition characterized by cystic dilatation of the vagina, can arise from various etiologies, including isolated imperforate hymen and vaginal atresia. Genetic conditions, such as Bardet-Biedl syndrome (BBS), may also manifest with hydrocolpos as part of urogenital malformations.</p><p><strong>Methods: </strong>We present a case of neonatal hydrocolpos associated with BBS. Sequencing of 19 BBS genes was performed to elucidate the genetic basis of the syndrome.</p><p><strong>Results: </strong>Genetic analysis revealed a novel frameshift indel variant (c.1543_1546dup p.Thr516Argfs*7) in the BBS10 gene. This finding expands the spectrum of BBS mutations and underscores the importance of genetic evaluation in patients with hydrocolpos, particularly when associated with additional clinical features suggestive of syndromic etiology.</p><p><strong>Conclusion: </strong>Pediatric urologists should maintain a high index of suspicion for underlying genetic conditions, including BBS, in neonates presenting with hydrocolpos, given the potential for more severe associated complications such as renal and retinal diseases, obesity, and polydactyly.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"34-39"},"PeriodicalIF":2.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299514","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
Exploring Testicular Descent: Recent Findings and Future Prospects in Canine Cryptorchidism. 探索睾丸下降:犬类隐睾症的最新发现和未来展望。
IF 2.4 4区 医学
Sexual Development Pub Date : 2024-01-01 Epub Date: 2024-11-06 DOI: 10.1159/000542245
Paulina Krzeminska
{"title":"Exploring Testicular Descent: Recent Findings and Future Prospects in Canine Cryptorchidism.","authors":"Paulina Krzeminska","doi":"10.1159/000542245","DOIUrl":"10.1159/000542245","url":null,"abstract":"<p><strong>Background: </strong>Canine cryptorchidism, manifested by an abnormal testicular position, poses significant health risks and reproductive challenges in affected males. Despite a high prevalence, estimated at up to 10% in the canine population, a comprehensive understanding of its pathogenesis remains elusive. Studies in human cryptorchids and knockout mice have identified key factors involved in testicular descent, including INSL3, RXFP2, and AR. To date, only three DNA variants, found in the RXFP2, HMGA2, and KAT6A genes, have been associated with canine cryptorchidism.</p><p><strong>Summary: </strong>This review briefly summarizes current knowledge on testicular descent and the factors that regulate this process, based on cryptorchidism in humans and mice. It also highlights recent findings related to canine cryptorchidism, focusing on the INSL3, HMGA2, and KAT6A genes. The most significant results are discussed, with an emphasis on the role of the epididymis in testicular descent. This report presents insights that may facilitate further research aiming to broaden our understanding of canine cryptorchidism pathogenesis.</p><p><strong>Key messages: </strong>DNA polymorphism in the KAT6A gene, associated with changes in global H3K9 acetylation, as well as the DNA methylation pattern in the INSL3 gene, suggest that further research should strongly focus on epigenetic modifications. In addition, the development of the epididymo-testicular junction and the link between cryptorchidism prevalence and dog size should be further investigated.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"1-13"},"PeriodicalIF":2.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592015","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
Analysis of Functional cis-Regulatory Elements Reveals Novel Transcriptional Regulatory Mechanisms in Gonadal Development. 功能顺式调控元件分析揭示性腺发育中新的转录调控机制。
IF 2.4 4区 医学
Sexual Development Pub Date : 2024-01-01 Epub Date: 2025-01-20 DOI: 10.1159/000543594
Shizuka Kirino, Ryuichi Nakagawa, Maki Gau, Kei Takasawa, Yasuhiro Murakawa, Hideya Kawaji, Yoshihide Hayashizaki, Tomohiro Morio, Kenichi Kashimada
{"title":"Analysis of Functional cis-Regulatory Elements Reveals Novel Transcriptional Regulatory Mechanisms in Gonadal Development.","authors":"Shizuka Kirino, Ryuichi Nakagawa, Maki Gau, Kei Takasawa, Yasuhiro Murakawa, Hideya Kawaji, Yoshihide Hayashizaki, Tomohiro Morio, Kenichi Kashimada","doi":"10.1159/000543594","DOIUrl":"10.1159/000543594","url":null,"abstract":"<p><strong>Introduction: </strong>Recent studies have demonstrated that the production of bidirectional enhancer-derived transcripts (eRNAs) is a characteristic of an active cis-regulatory element (CRE). Higher levels of eRNAs synthesis correlate with the activation of histone modifications, a potentially valuable tool for deciphering the complexity of the gene regulatory network.</p><p><strong>Method: </strong>To understand the changes of CREs during gonadal development in mice, we collected gonadal WT1-positive cells from the piggyBac-Wt1-mCherry-2A-EGFP (PBWt1-RG) reporter strain at E13.5, E16.5, and P0 in both sexes and conducted cap analysis of gene expression (CAGE) analysis, which is capable to capture transcription start sites (TSSs). We compared the levels of intergenic bidirectional RNAs, i.e., potentially eRNAs, according to sex at each stage (testis somatic cells vs. ovary somatic cells at E13.5, E16.5, and P0) and stage in each sex (E13.5 vs. E16.5, E16.5 vs. P0, and E13.5 vs. P0 in testis somatic cells or ovary somatic cells). Intergenic RNAs with significant changes (|Log2FC| > 1, p < 0.05) were selected.</p><p><strong>Results: </strong>The TSS profile of intergenic RNAs changed more profoundly in testis somatic cells than in ovary somatic cells, suggesting that embryonic testicular development is driven by larger changes in the transcriptional regulatory network than ovarian development. Based on the profiles of the predicted transcription factors (TFs) that would bind to the active CREs during gonadal development, the NR4A, EGR, and TCF3 families would be novel TFs to play pivotal roles in gonadal development.</p><p><strong>Conclusion: </strong>Identifying active CREs using eRNAs would provide a means to comprehensively understand the transcriptional regulatory system, leading to valuable insights into the gonadal development of male and female individuals.</p>","PeriodicalId":49536,"journal":{"name":"Sexual Development","volume":" ","pages":"14-26"},"PeriodicalIF":2.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014863","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
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