{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,6]],"date-time":"2025-05-06T15:16:54Z","timestamp":1746544614279,"version":"3.37.3"},"reference-count":78,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T00:00:00Z","timestamp":1711411200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32072699"],"award-info":[{"award-number":["32072699"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Guangdong Provincial Natural Science Foundation of China","award":["2020B1515120057"],"award-info":[{"award-number":["2020B1515120057"]}]},{"name":"Key Technologies R&D Program of Guangdong Province","award":["2022B0202090001"],"award-info":[{"award-number":["2022B0202090001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Pigs serve as a robust animal model for the study of human diseases, notably in the context of disorders of sex development (DSD). This study aims to investigate the phenotypic characteristics and molecular mechanisms underlying the reproductive and developmental abnormalities of 38,XX ovotestis-DSD (OT-DSD) and 38,XX testis-DSD (T-DSD) in pigs. Clinical and transcriptome sequencing analyses were performed on DSD and normal female pigs. Cytogenetic and SRY analyses confirmed that OT\/T-DSD pigs exhibited a 38,XX karyotype and lacked the SRY gene. The DSD pigs had higher levels of follicle-stimulating hormone, luteinizing hormone, and progesterone, but lower testosterone levels when compared with normal male pigs. The reproductive organs of OT\/T-DSD pigs exhibit abnormal development, displaying both male and female characteristics, with an absence of germ cells in the seminiferous tubules. Sex determination and development-related differentially expressed genes shared between DSD pigs were identified in the gonads, including WT1, DKK1, CTNNB1, WTN9B, SHOC, PTPN11, NRG1, and NXK3\u20131. DKK1 is proposed as a candidate gene for investigating the regulatory mechanisms underlying gonadal phenotypic differences between OT-DSD and T-DSD pigs. Consequently, our findings provide insights into the molecular pathogenesis of DSD pigs and present an animal model for studying into DSD in humans.<\/jats:p>","DOI":"10.1093\/biolre\/ioae046","type":"journal-article","created":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T03:08:02Z","timestamp":1711508882000},"page":"212-226","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and gonadal transcriptome analysis of 38,XX disorder of sex development pigs"],"prefix":"10.1093","volume":"111","author":[{"given":"Jinhua","family":"Wu","sequence":"first","affiliation":[{"name":"College of Veterinary Medicine, South China Agricultural University , Guangzhou , China"},{"name":"Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding , School of Life Science and Engineering, , Foshan , China"},{"name":"Foshan University , School of Life Science and Engineering, , Foshan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuwen","family":"Tan","sequence":"additional","affiliation":[{"name":"Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding , School of Life Science and Engineering, , Foshan , China"},{"name":"Foshan University , School of Life Science and Engineering, , Foshan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Zhou","sequence":"additional","affiliation":[{"name":"Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding , School of Life Science and Engineering, , Foshan , China"},{"name":"Foshan University , School of Life Science and Engineering, , Foshan , China"},{"name":"College of Basic Medicine, Zunyi Medical University , Zunyi , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiquan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding , School of Life Science and Engineering, , Foshan , China"},{"name":"Foshan University , School of Life Science and Engineering, , Foshan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Yu","sequence":"additional","affiliation":[{"name":"Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding , School of Life Science and Engineering, , Foshan , China"},{"name":"Foshan University , School of Life Science and Engineering, , Foshan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bingzhou","family":"Zhong","sequence":"additional","affiliation":[{"name":"Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding , School of Life Science and Engineering, , Foshan , China"},{"name":"Foshan University , School of Life Science and Engineering, , Foshan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Congying","family":"Yu","sequence":"additional","affiliation":[{"name":"Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding , School of Life Science and Engineering, , Foshan , China"},{"name":"Foshan University , School of Life Science and Engineering, , Foshan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haoming","family":"Wang","sequence":"additional","affiliation":[{"name":"Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding , School of Life Science and Engineering, , Foshan , China"},{"name":"Foshan University , School of Life Science and Engineering, , Foshan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin","family":"Yang","sequence":"additional","affiliation":[{"name":"Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding , School of Life Science and Engineering, , Foshan , China"},{"name":"Foshan University , School of Life Science and Engineering, , Foshan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Li","sequence":"additional","affiliation":[{"name":"Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding , School of Life Science and Engineering, , Foshan , China"},{"name":"Foshan University , School of Life Science and Engineering, , Foshan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yugu","family":"Li","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, South China Agricultural University , Guangzhou , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,3,26]]},"reference":[{"key":"2024071508055063300_ref1","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.jpurol.2006.03.004","article-title":"Lawson Wilkins Pediatric Endocrine Society\/European Society for Paediatric Endocrinology Consensus G. Consensus statement on management of intersex disorders","volume":"2","author":"Hughes","year":"2006","journal-title":"J Pediatr Urol"},{"key":"2024071508055063300_ref2","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41585-023-00754-x","article-title":"Genetic control of typical and atypical sex development","volume":"20","author":"Reyes","year":"2023","journal-title":"Nat Rev Urol"},{"key":"2024071508055063300_ref3","doi-asserted-by":"crossref","first-page":"e79882","DOI":"10.1371\/journal.pone.0079882","article-title":"A genome-wide association study points out the causal implication of SOX9 in the sex-reversal phenotype in XX pigs","volume":"8","author":"Rousseau","year":"2013","journal-title":"PloS One"},{"key":"2024071508055063300_ref4","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0093-691X(96)00343-3","article-title":"Relevance of intersexuality to breeding and reproductive biotechnology programs; XX sex reversal in pigs","volume":"47","author":"Pailhoux","year":"1997","journal-title":"Theriogenology"},{"key":"2024071508055063300_ref5","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/dvdy.1194","article-title":"Time course of female-to-male sex reversal in 38,XX fetal and postnatal pigs","volume":"222","author":"Pailhoux","year":"2001","journal-title":"Dev Dyn"},{"key":"2024071508055063300_ref6","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1046\/j.1365-2052.2002.00813.x","article-title":"A case of intersexuality in pigs associated with a de novo paracentric inversion 9 (p1.2; p2.2)","volume":"33","author":"Pinton","year":"2002","journal-title":"Anim Genet"},{"key":"2024071508055063300_ref7","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.livsci.2017.07.002","article-title":"Polymorphisms in the SOX9 region and testicular disorder of sex development (38, XX; SRY-negative) in pigs","volume":"203","author":"Stachowiak","year":"2017","journal-title":"Livest Sci"},{"key":"2024071508055063300_ref8","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1002\/jez.1120","article-title":"Contribution of domestic animals to the identification of new genes involved in sex determination","volume":"290","author":"Pailhoux","year":"2001","journal-title":"J Exp Zool"},{"key":"2024071508055063300_ref9","doi-asserted-by":"crossref","first-page":"5319","DOI":"10.1038\/s41467-018-07784-9","article-title":"Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9","volume":"9","author":"Croft","year":"2018","journal-title":"Nat Commun"},{"key":"2024071508055063300_ref10","doi-asserted-by":"crossref","first-page":"2782","DOI":"10.1002\/ajmg.a.62373","article-title":"Whole genome sequencing identifies a crypticSOX9regulatory element duplication underlying a case of 46,XXovotesticular difference of sexual development","volume":"185","author":"Qian","year":"2021","journal-title":"Am J Med Genet A"},{"key":"2024071508055063300_ref11","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1159\/000452888","article-title":"A 46,XX Ovotesticular disorder of sex development likely caused by a steroidogenic Factor-1 (NR5A1) variant","volume":"87","author":"Swartz","year":"2017","journal-title":"Horm Res Paediatr"},{"key":"2024071508055063300_ref12","doi-asserted-by":"crossref","first-page":"13680","DOI":"10.1073\/pnas.1921676117","article-title":"Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene","volume":"117","author":"Eozenou","year":"2020","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024071508055063300_ref13","first-page":"1248","article-title":"A novel WT1 mutation identified in a 46,XX testicular\/Ovotesticular DSD patient results in the retention of intron 9","volume":"10","author":"Sirokha","year":"2021","journal-title":"Biology (Basel)"},{"key":"2024071508055063300_ref14","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1159\/000485393","article-title":"A novel homozygous missense mutation in the FU-CRD2 domain of the R-spondin1 gene associated with familial 46","volume":"11","author":"Naasse","year":"2017","journal-title":"XX DSD Sex Dev"},{"key":"2024071508055063300_ref15","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1002\/ajmg.a.38646","article-title":"NovelRSPO1mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: a review of literature and expansion of clinical phenotype","volume":"176","author":"Tallapaka","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2024071508055063300_ref16","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1038\/ng769","article-title":"A 11.7-kb deletion triggers intersexuality and polledness in goats","volume":"29","author":"Pailhoux","year":"2001","journal-title":"Nat Genet"},{"key":"2024071508055063300_ref17","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1111\/age.12918","article-title":"New genomic features of the polled intersex syndrome variant in goats unraveled by long-read whole-genome sequencing","volume":"51","author":"Simon","year":"2020","journal-title":"Anim Genet"},{"key":"2024071508055063300_ref18","doi-asserted-by":"crossref","first-page":"eabd5758","DOI":"10.1126\/scitranslmed.abd5758","article-title":"Importance of the pig as a human biomedical model","volume":"13","author":"Lunney","year":"2021","journal-title":"Sci Transl Med"},{"key":"2024071508055063300_ref19","first-page":"45","article-title":"Microtechnic for the study of human chromosomes from a human leukocyte culture","volume":"7","author":"De Grouchy","year":"1964","journal-title":"Ann Genet"},{"key":"2024071508055063300_ref20","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1111\/j.1601-5223.1964.tb01953.x","article-title":"Nomenclature for centromeric position on chromosomes","volume":"52","author":"Levan","year":"2010","journal-title":"Hereditas"},{"key":"2024071508055063300_ref21","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1093\/bioinformatics\/btt656","article-title":"featureCounts: an efficient general purpose program for assigning sequence reads to genomic features","volume":"30","author":"Liao","year":"2014","journal-title":"Bioinformatics"},{"key":"2024071508055063300_ref22","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1093\/bioinformatics\/btp612","article-title":"DEGseq: an R package for identifying differentially expressed genes from RNA-seq data","volume":"26","author":"Wang","year":"2010","journal-title":"Bioinformatics"},{"key":"2024071508055063300_ref23","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1101\/gr.124321.111","article-title":"Differential expression in RNA-seq: a matter of depth","volume":"21","author":"Tarazona","year":"2011","journal-title":"Genome Res"},{"key":"2024071508055063300_ref24","first-page":"e140","article-title":"Data quality aware analysis of differential expression in RNA-seq with NOISeq R\/Bioc package","volume":"43","author":"Tarazona","year":"2015","journal-title":"Nucleic Acids Res"},{"key":"2024071508055063300_ref25","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1093\/bioinformatics\/btp616","article-title":"edgeR: a Bioconductor package for differential expression analysis of digital gene expression data","volume":"26","author":"Robinson","year":"2010","journal-title":"Bioinformatics"},{"key":"2024071508055063300_ref26","doi-asserted-by":"crossref","first-page":"R14","DOI":"10.1186\/gb-2010-11-2-r14","article-title":"Gene ontology analysis for RNA-seq: accounting for selection bias","volume":"11","author":"Young","year":"2010","journal-title":"Genome Biol"},{"key":"2024071508055063300_ref27","doi-asserted-by":"crossref","first-page":"422","DOI":"10.3109\/09513590.2011.633661","article-title":"Does day-3 LH\/FSH ratio influence in vitro fertilization outcome in PCOS patients undergoing controlled ovarian hyperstimulation with different GnRH-analogue?","volume":"28","author":"Orvieto","year":"2012","journal-title":"Gynecol Endocrinol"},{"key":"2024071508055063300_ref28","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1093\/bioinformatics\/btp101","article-title":"ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks","volume":"25","author":"Bindea","year":"2009","journal-title":"Bioinformatics"},{"key":"2024071508055063300_ref29","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2008743118","article-title":"Knockout of the HMG domain of the porcine SRY gene causes sex reversal in gene-edited pigs","volume":"118","author":"Kurtz","year":"2021","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024071508055063300_ref30","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1071\/RD18514","article-title":"Late-onset vanishing testis-like syndrome in a 38,XX\/38,XY agonadic pig (sus scrofa)","volume":"32","author":"Vilchis","year":"2020","journal-title":"Reprod Fertil Dev"},{"key":"2024071508055063300_ref31","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/1471-2490-14-70","article-title":"Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive","volume":"14","author":"Wu","year":"2014","journal-title":"BMC Urol"},{"key":"2024071508055063300_ref32","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1590\/s1677-5538.ibju.2016.0505","article-title":"Ten cases with 46,XX testicular disorder of sex development: single center experience","volume":"43","author":"Akinsal","year":"2017","journal-title":"Int Braz J Urol"},{"key":"2024071508055063300_ref33","first-page":"13","article-title":"Somatic cell fate maintenance in mouse fetal testes via autocrine\/paracrine action of AMH and activin B. Nature","volume":"13","author":"Rodriguez","year":"2022","journal-title":"Communications"},{"key":"2024071508055063300_ref34","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1093\/biolre\/ioad037","article-title":"From Enrico Sertoli to freemartinism: the many phases of the master testis-determining cell","volume":"108","author":"Yao","year":"2023","journal-title":"Biol Reprod"},{"key":"2024071508055063300_ref35","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1126\/science.add8831","article-title":"The -KTS splice variant of WT1 is essential for ovarian determination in mice","volume":"382","author":"Gregoire","year":"2023","journal-title":"Science"},{"key":"2024071508055063300_ref36","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1093\/biolre\/ioac050","article-title":"The functions of Wt1 in mouse gonad development and somatic cells differentiation","volume":"107","author":"Chen","year":"2022","journal-title":"Biol Reprod"},{"key":"2024071508055063300_ref37","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1007\/s00018-022-04521-w","article-title":"Sertoli cell survival and barrier function are regulated by miR-181c\/d-axis during mammalian spermatogenesis","volume":"79","author":"Feng","year":"2022","journal-title":"Cell Mol Life Sci"},{"key":"2024071508055063300_ref38","doi-asserted-by":"crossref","first-page":"e1003645","DOI":"10.1371\/journal.pgen.1003645","article-title":"The Wilms tumor gene, Wt1, is critical for mouse spermatogenesis via regulation of sertoli cell polarity and is associated with non-obstructive azoospermia in humans","volume":"9","author":"Wang","year":"2013","journal-title":"PLoS Genet"},{"key":"2024071508055063300_ref39","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1210\/me.2012-1126","article-title":"CTNNB1 in mesenchyme regulates epithelial cell differentiation during Mullerian duct and postnatal uterine development","volume":"27","author":"Stewart","year":"2013","journal-title":"Mol Endocrinol"},{"key":"2024071508055063300_ref40","doi-asserted-by":"crossref","first-page":"4528","DOI":"10.1073\/pnas.1814506116","article-title":"Ovarian insufficiency and CTNNB1 mutations drive malignant transformation of endometrial hyperplasia with altered PTEN\/PI3K activities","volume":"116","author":"Terakawa","year":"2019","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024071508055063300_ref41","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1242\/dev.056143","article-title":"Beta-catenin is essential for Mullerian duct regression during male sexual differentiation","volume":"138","author":"Kobayashi","year":"2011","journal-title":"Development"},{"key":"2024071508055063300_ref42","doi-asserted-by":"crossref","first-page":"e29764","DOI":"10.1371\/journal.pone.0029764","article-title":"CTNNB1 signaling in sertoli cells downregulates spermatogonial stem cell activity via WNT4","volume":"7","author":"Boyer","year":"2012","journal-title":"PLoS One"},{"key":"2024071508055063300_ref43","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.ydbio.2017.04.010","article-title":"Constitutive WNT\/CTNNB1 activation triggers spermatogonial stem cell proliferation and germ cell depletion","volume":"426","author":"Chassot","year":"2017","journal-title":"Dev Biol"},{"key":"2024071508055063300_ref44","doi-asserted-by":"crossref","first-page":"E1489","DOI":"10.1073\/pnas.1601461113","article-title":"Paracrine Wnt\/beta-catenin signaling mediates proliferation of undifferentiated spermatogonia in the adult mouse testis","volume":"113","author":"Takase","year":"2016","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024071508055063300_ref45","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1159\/000327709","article-title":"Expression and functional analysis of Dkk1 during early gonadal development","volume":"5","author":"Combes","year":"2011","journal-title":"Sex Dev"},{"key":"2024071508055063300_ref46","doi-asserted-by":"crossref","first-page":"3731","DOI":"10.1242\/dev.024653","article-title":"Ovarian development in mice requires the GATA4-FOG2 transcription complex","volume":"135","author":"Manuylov","year":"2008","journal-title":"Development"},{"key":"2024071508055063300_ref47","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1210\/er.2017-00232","article-title":"The RASopathy family: consequences of germline activation of the RAS\/MAPK pathway","volume":"39","author":"Tajan","year":"2018","journal-title":"Endocr Rev"},{"key":"2024071508055063300_ref48","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1111\/j.1365-2605.2009.00966.x","article-title":"Fibroblast growth factor 9 stimulates steroidogenesis in postnatal Leydig cells","volume":"33","author":"Lin","year":"2010","journal-title":"Int J Androl"},{"key":"2024071508055063300_ref49","article-title":"Fibroblast growth factor 9 activates akt and MAPK pathways to stimulate steroidogenesis in mouse leydig cells","volume":"9","author":"Lai","year":"2014","journal-title":"PLoS One"},{"key":"2024071508055063300_ref50","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.mce.2011.12.005","article-title":"Consequences of RAS and MAPK activation in the ovary: the good, the bad and the ugly","volume":"356","author":"Fan","year":"2012","journal-title":"Mol Cell Endocrinol"},{"key":"2024071508055063300_ref51","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.nefro.2019.03.004","article-title":"MAP3K kinases and kidney injury","volume":"39","author":"Cuarental","year":"2019","journal-title":"Nefrologia"},{"key":"2024071508055063300_ref52","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1002\/ajmg.a.33987","article-title":"Co-occurring SHOC2 and PTPN11 mutations in a patient with severe\/complex Noonan syndrome-like phenotype","volume":"155A","author":"Ekvall","year":"2011","journal-title":"Am J Med Genet A"},{"key":"2024071508055063300_ref53","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.neuint.2017.09.005","article-title":"Arctic Abeta40 blocks the nicotine-induced neuroprotective effect of CHRNA7 by inhibiting the ERK1\/2 pathway in human neuroblastoma cells","volume":"110","author":"Ju","year":"2017","journal-title":"Neurochem Int"},{"key":"2024071508055063300_ref54","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1095\/biolreprod.105.042184","article-title":"Mice deficient in CHRNA7, a subunit of the nicotinic acetylcholine receptor, produce sperm with impaired motility","volume":"73","author":"Bray","year":"2005","journal-title":"Biol Reprod"},{"key":"2024071508055063300_ref55","doi-asserted-by":"crossref","first-page":"4209","DOI":"10.2174\/1381612823666170720113216","article-title":"Protein kinases as tumor biomarkers and therapeutic targets","volume":"23","author":"Quan","year":"2017","journal-title":"Curr Pharm Des"},{"key":"2024071508055063300_ref56","doi-asserted-by":"crossref","first-page":"R159","DOI":"10.1530\/REP-14-0481","article-title":"Regulation of spermatogonial stem cell self-renewal and spermatocyte meiosis by Sertoli cell signaling","volume":"149","author":"Chen","year":"2015","journal-title":"Reproduction"},{"key":"2024071508055063300_ref57","doi-asserted-by":"crossref","first-page":"4899","DOI":"10.1210\/en.2016-1478","article-title":"Neuregulin 1 regulates proliferation of Leydig cells to support spermatogenesis and sexual behavior in adult mice","volume":"157","author":"Umehara","year":"2016","journal-title":"Endocrinology"},{"key":"2024071508055063300_ref58","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1002\/dvdy.22631","article-title":"Development of the external genitalia: conserved and divergent mechanisms of appendage patterning","volume":"240","author":"Cohn","year":"2011","journal-title":"Dev Dyn"},{"key":"2024071508055063300_ref59","doi-asserted-by":"crossref","DOI":"10.1126\/scisignal.aao5617","article-title":"Synthetic lethality of TNK2 inhibition in PTPN11-mutant leukemia","volume":"11","author":"Jenkins","year":"2018","journal-title":"Sci Signal"},{"key":"2024071508055063300_ref60","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.semcdb.2016.01.020","article-title":"The regulation of male fertility by the PTPN11 tyrosine phosphatase","volume":"59","author":"Puri","year":"2016","journal-title":"Semin Cell Dev Biol"},{"key":"2024071508055063300_ref61","doi-asserted-by":"crossref","first-page":"3789","DOI":"10.2527\/jas.2011-4696","article-title":"Follicle-stimulating hormone regulation of estradiol production: possible involvement of WNT2 and beta-catenin in bovine granulosa cells","volume":"90","author":"Castanon","year":"2012","journal-title":"J Anim Sci"},{"key":"2024071508055063300_ref62","first-page":"35","article-title":"Expression and function of CTNNB1 in the development of avian reproductive system","volume":"38","author":"Bae","year":"2014","journal-title":"J Clin Microbiol"},{"key":"2024071508055063300_ref63","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/j.rbmo.2013.11.011","article-title":"WNT9B in 542 Chinese women with Mullerian duct abnormalities: mutation analysis","volume":"28","author":"Tang","year":"2014","journal-title":"Reprod Biomed Online"},{"key":"2024071508055063300_ref64","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.ydbio.2016.02.025","article-title":"Epithelial Wnt\/betacatenin signalling is essential for epididymal coiling","volume":"412","author":"Kumar","year":"2016","journal-title":"Dev Biol"},{"key":"2024071508055063300_ref65","doi-asserted-by":"crossref","first-page":"2118","DOI":"10.1271\/bbb.120503","article-title":"Rat stem-cell leukemia gene expression increased during testis maturation","volume":"76","author":"Khalid","year":"2012","journal-title":"Biosci Biotechnol Biochem"},{"key":"2024071508055063300_ref66","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1002\/ajmg.a.61101","article-title":"A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype","volume":"179","author":"Wagner","year":"2019","journal-title":"Am J Med Genet A"},{"key":"2024071508055063300_ref67","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.molcel.2012.05.048","article-title":"MCM8- and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination","volume":"47","author":"Lutzmann","year":"2012","journal-title":"Mol Cell"},{"key":"2024071508055063300_ref68","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1007\/s13238-016-0354-6","article-title":"Synaptonemal complex protein 2 (SYCP2) mediates the association of the centromere with the synaptonemal complex","volume":"8","author":"Feng","year":"2017","journal-title":"Protein Cell"},{"key":"2024071508055063300_ref69","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/978-3-319-60855-6_15","article-title":"The regulation and function of Cohesin and Condensin in mammalian oocytes and spermatocytes","volume":"63","author":"Lee","year":"2017","journal-title":"Results Probl Cell Differ"},{"key":"2024071508055063300_ref70","doi-asserted-by":"crossref","first-page":"16052","DOI":"10.1038\/celldisc.2016.52","article-title":"MASTL is essential for anaphase entry of proliferating primordial germ cells and establishment of female germ cells in mice","volume":"3","author":"Risal","year":"2017","journal-title":"Cell Discov"},{"key":"2024071508055063300_ref71","doi-asserted-by":"crossref","first-page":"4781","DOI":"10.1007\/s00018-014-1703-3","article-title":"Regulation of male sex determination: genital ridge formation and Sry activation in mice","volume":"71","author":"Tanaka","year":"2014","journal-title":"Cell Mol Life Sci"},{"key":"2024071508055063300_ref72","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ad.2015.09.013","article-title":"Differential diagnosis of genetic disorders associated with moderate to severe refractory eczema and elevated immunoglobulin E","volume":"107","author":"Arjona Aguilera","year":"2016","journal-title":"Actas Dermosifiliogr"},{"key":"2024071508055063300_ref73","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.clim.2013.04.014","article-title":"Differentiating the roles of STAT5B and STAT5A in human CD4+ T cells","volume":"148","author":"Jenks","year":"2013","journal-title":"Clin Immunol"},{"key":"2024071508055063300_ref74","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1111\/cen.13885","article-title":"A 5alpha-reductase (SRD5A2) polymorphism is associated with serum testosterone and sex hormone-binding globulin in men, while aromatase (CYP19A1) polymorphisms are associated with oestradiol and luteinizing hormone reciprocally","volume":"90","author":"Yeap","year":"2019","journal-title":"Clin Endocrinol"},{"key":"2024071508055063300_ref75","first-page":"15018232","article-title":"Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46","volume":"15","author":"Fu","year":"2016","journal-title":"XY DSD Children Genet Mol Res"},{"key":"2024071508055063300_ref76","doi-asserted-by":"crossref","first-page":"518","DOI":"10.4103\/aja.aja_34_18","article-title":"Identification of a novel mutation in the SRD5A2 gene of one patient with 46,XY disorder of sex development","volume":"20","author":"Li","year":"2018","journal-title":"Asian J Androl"},{"key":"2024071508055063300_ref77","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/onc.2017.330","article-title":"Endogenous androgen receptor proteomic profiling reveals genomic subcomplex involved in prostate tumorigenesis","volume":"37","author":"Stelloo","year":"2018","journal-title":"Oncogene"},{"key":"2024071508055063300_ref78","doi-asserted-by":"crossref","first-page":"84761","DOI":"10.18632\/oncotarget.21380","article-title":"The histone demethylase Kdm3a is required for normal epithelial proliferation, ductal elongation and tumor growth in the mouse mammary gland","volume":"8","author":"Qin","year":"2017","journal-title":"Oncotarget"}],"container-title":["Biology of Reproduction"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/biolreprod\/advance-article-pdf\/doi\/10.1093\/biolre\/ioae046\/57270152\/ioae046.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/biolreprod\/article-pdf\/111\/1\/212\/58539386\/ioae046.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/biolreprod\/article-pdf\/111\/1\/212\/58539386\/ioae046.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T08:07:30Z","timestamp":1721030850000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/biolreprod\/article\/111\/1\/212\/7635499"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,26]]},"references-count":78,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,3,26]]},"published-print":{"date-parts":[[2024,7,12]]}},"URL":"https:\/\/doi.org\/10.1093\/biolre\/ioae046","relation":{},"ISSN":["0006-3363","1529-7268"],"issn-type":[{"type":"print","value":"0006-3363"},{"type":"electronic","value":"1529-7268"}],"subject":[],"published-other":{"date-parts":[[2024,7]]},"published":{"date-parts":[[2024,3,26]]}}}