{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T07:28:25Z","timestamp":1792481305786,"version":"4.5.0"},"reference-count":90,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,10,25]],"date-time":"2022-10-25T00:00:00Z","timestamp":1666656000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"National Health and Medical Research Council of Australia"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser (MRKH) syndrome is a congenital condition characterized by aplasia or hypoplasia of the uterus and vagina in women with a 46,XX karyotype. This condition can occur as type I when isolated or as type II when associated with extragenital anomalies including kidney and skeletal abnormalities. The genetic basis of MRKH syndrome remains unexplained and several candidate genes have been proposed to play a role in its etiology, including HNF1B, LHX1 and WNT4. Here, we conducted a microarray analysis of 13 women affected by MRKH syndrome, resulting in the identification of chromosomal changes, including the deletion at 17q12, which contains both HNF1B and LHX1. We focused on HNF1B for further investigation due to its known association with, but unknown etiological role in, MRKH syndrome. We ablated Hnf1b specifically in the epithelium of the M\u00fcllerian ducts in mice and found that this caused hypoplastic development of the uterus, as well as kidney anomalies, closely mirroring the MRKH type II phenotype. Using single-cell RNA sequencing of uterine tissue in the Hnf1b-ablated embryos, we analyzed the molecules and pathways downstream of Hnf1b, revealing a dysregulation of processes associated with cell proliferation, migration and differentiation. Thus, we establish that loss of Hnf1b function leads to an MRKH phenotype and generate the first mouse model of MRKH syndrome type II. Our results support the investigation of HNF1B in clinical genetic settings of MRKH syndrome and shed new light on the molecular mechanisms underlying this poorly understood condition in women\u2019s reproductive health.<\/jats:p>","DOI":"10.1093\/hmg\/ddac262","type":"journal-article","created":{"date-parts":[[2022,10,25]],"date-time":"2022-10-25T17:54:28Z","timestamp":1666720468000},"page":"1032-1047","source":"Crossref","is-referenced-by-count":23,"title":["Functional genomics analysis identifies loss of<i>HNF1B<\/i>function as a cause of Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser syndrome"],"prefix":"10.1093","volume":"32","author":[{"given":"Ella","family":"Thomson","sequence":"first","affiliation":[{"name":"Centre for Clinical Research, The University of Queensland , Brisbane, QLD , Australia"},{"name":"Institute for Molecular Bioscience, The University of Queensland , Brisbane, QLD , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minh","family":"Tran","sequence":"additional","affiliation":[{"name":"Institute for Molecular Bioscience, The University of Queensland , Brisbane, QLD , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gorjana","family":"Robevska","sequence":"additional","affiliation":[{"name":"Reproductive Development, Murdoch Children's Research Institute , Melbourne, VIC , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6840-3186","authenticated-orcid":false,"given":"Katie","family":"Ayers","sequence":"additional","affiliation":[{"name":"Reproductive Development, Murdoch Children's Research Institute , Melbourne, VIC , Australia"},{"name":"Department of Paediatrics, The University of Melbourne , Melbourne, VIC , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn","family":"van der Bergen","sequence":"additional","affiliation":[{"name":"Reproductive Development, Murdoch Children's Research Institute , Melbourne, VIC , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prarthna","family":"Gopalakrishnan Bhaskaran","sequence":"additional","affiliation":[{"name":"Centre for Clinical Research, The University of Queensland , Brisbane, QLD , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Haan","sequence":"additional","affiliation":[{"name":"Faculty of Health and Medical Sciences, The University of Adelaide , Adelaide, SA , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Cereghini","sequence":"additional","affiliation":[{"name":"Institut de Biologie Paris-Seine, Sorbonne Universit\u00e9 , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alla","family":"Vash-Margita","sequence":"additional","affiliation":[{"name":"Division of Pediatric and Adolescent Gynecology, Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine , New Haven, CT , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miranda","family":"Margetts","sequence":"additional","affiliation":[{"name":"Center for American Indian and Rural Health Equity, Montana State University , Bozeman, MT , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Hensley","sequence":"additional","affiliation":[{"name":"MRKH Australia , Melbourne, VIC , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quan","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute for Molecular Bioscience, The University of Queensland , Brisbane, QLD , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Sinclair","sequence":"additional","affiliation":[{"name":"Reproductive Development, Murdoch Children's Research Institute , Melbourne, VIC , Australia"},{"name":"Department of Paediatrics, The University of Melbourne , Melbourne, VIC , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Koopman","sequence":"additional","affiliation":[{"name":"Institute for Molecular Bioscience, The University of Queensland , Brisbane, QLD , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1890-9821","authenticated-orcid":false,"given":"Emanuele","family":"Pelosi","sequence":"additional","affiliation":[{"name":"Centre for Clinical Research, The University of Queensland , Brisbane, QLD , Australia"},{"name":"Institute for Molecular Bioscience, The University of Queensland , Brisbane, QLD , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,10,25]]},"reference":[{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1016\/S0022-3476(79)80514-4","article-title":"The MURCS association: Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia","volume":"95","author":"Duncan","year":"1979","journal-title":"J. Pediatr."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1750-1172-2-13","article-title":"Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome","volume":"2","author":"Morcel","year":"2007","journal-title":"Orphanet J. Rare. Dis."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.jpag.2014.07.019","article-title":"Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome","volume":"28","author":"Rall","year":"2015","journal-title":"J. Pediatr. Adolesc. Gynecol."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"2326","DOI":"10.1093\/humrep\/15.11.2326","article-title":"Gestational surrogacy: a feasible option for patients with Rokitansky syndrome","volume":"15","author":"Beski","year":"2000","journal-title":"Hum. Reprod."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/S0140-6736(14)61728-1","article-title":"Livebirth after uterus transplantation","volume":"385","author":"Br\u00e4nnstr\u00f6m","year":"2015","journal-title":"Lancet"},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"e222612","DOI":"10.1001\/jamasurg.2022.2612","article-title":"The first 5 years of uterus transplant in the US: a report from the United States uterus transplant consortium","volume":"157","author":"Johannesson","year":"2022","journal-title":"JAMA Surg."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"484","DOI":"10.3390\/children9040484","article-title":"The impact of Mayer-Rokitansky-K\u00fcster-Hauser syndrome on psychology, quality of life, and sexual life of patients: a systematic review","volume":"9","author":"Tsarna","year":"2022","journal-title":"Child. Aust."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1093\/humrep\/den059","article-title":"Higher incidence of linked malformations in siblings of Mayer-Rokitansky-K\u00fcster-Hauser-syndrome patients","volume":"23","author":"Wottgen","year":"2008","journal-title":"Hum. Reprod."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"e73","DOI":"10.1016\/j.jpag.2008.07.012","article-title":"Discordance in Mayer-von Rokitansky-K\u00fcster-Hauser Syndrome noted in monozygotic twins","volume":"22","author":"Duru","year":"2009","journal-title":"J. Pediatr. Adolesc. Gynecol."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/j.fertnstert.2014.10.053","article-title":"Mayer-Rokitansky-Kuster-Hauser syndrome discordance in monozygotic twins: Matrix metalloproteinase 14, low-density lipoprotein receptor-related protein 10, extracellular matrix, and neoangiogenesis genes identified as candidate genes in a tissue-specific mosaicism","volume":"103","author":"Rall","year":"2015","journal-title":"Fertil. Steril."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"684","DOI":"10.3109\/09513590.2015.1032928","article-title":"Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins \u2013 a case report and implications for reproduction in MRKH women","volume":"31","author":"Milsom","year":"2015","journal-title":"Gynecol. Endocrinol."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"2276","DOI":"10.1002\/ajmg.a.36652","article-title":"Familial occurrence of Mayer-Rokitansky-Kuster-Hauser syndrome: a case report and review of the literature","volume":"164A","author":"Herlin","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1093\/humrep\/dew220","article-title":"Prevalence and patient characteristics of Mayer-Rokitansky-Kuster-Hauser syndrome: a nationwide registry-based study","volume":"31","author":"Herlin","year":"2016","journal-title":"Hum. Reprod."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"817","DOI":"10.3109\/01443615.2016.1157149","article-title":"Familial occurrence of Mayer-Rokitansky-Kuster-Hauser syndrome","volume":"36","author":"Ma","year":"2016","journal-title":"J. Obstet. Gynaecol."},{"key":"2023030719034240700_","first-page":"657","article-title":"The embryological landscape of Mayer-Rokitansky-Kuster-Hauser syndrome: genetics and environmental factors","volume":"94","author":"Kyei-Barffour","year":"2021","journal-title":"Yale J. Biol. Med."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"2141","DOI":"10.1002\/ajmg.a.37775","article-title":"Etiologies of uterine malformations","volume":"170","author":"Jacquinet","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1159\/000364935","article-title":"Molecular genetics of M\u00fcllerian duct formation, regression and differentiation","volume":"8","author":"Mullen","year":"2014","journal-title":"Sex. 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Genet."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1016\/j.fertnstert.2010.07.1062","article-title":"Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Kuster-Hauser syndrome","volume":"95","author":"Ledig","year":"2011","journal-title":"Fertil. Steril."},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1046\/j.1365-2443.2001.00488.x","article-title":"Disruption of MSSP, c-myc single-strand binding protein, leads to embryonic lethality in some homozygous mice","volume":"6","author":"Fujimoto","year":"2001","journal-title":"Genes Cells"},{"key":"2023030719034240700_","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1159\/000362448","article-title":"Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory","volume":"77","author":"Sund","year":"2014","journal-title":"Hum. 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