A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Müllerian duct syndrome.

Journal of Andrology
Xiufeng WuV N Meyers-Wallen

Abstract

Müllerian inhibiting substance (MIS), a secreted glycoprotein in the transforming growth factor-beta family of growth factors, mediates regression of the Müllerian ducts during embryonic sex differentiation in males. In persistent Müllerian duct syndrome (PMDS), rather than undergoing involution, the Müllerian ducts persist in males, giving rise to the uterus, fallopian tubes, and upper vagina. Genetic defects in MIS or its receptor (MISRII) have been identified in patients with PMDS. The phenotype in the canine model of PMDS derived from the miniature schnauzer breed is strikingly similar to that of human patients. In this model, PMDS is inherited as a sex-limited autosomal recessive trait. Previous studies indicated that a defect in the MIS receptor or its downstream signaling pathway was likely to be causative of the canine syndrome. In this study, the canine PMDS phenotype and clinical sequelae are described in detail. Affected and unaffected members of this pedigree are genotyped, identifying a single base pair substitution in MISRII that introduces a stop codon in exon 3. The homozygous mutation terminates translation at 80 amino acids, eliminating much of the extracellular domain and the entire transmembrane and intracel...Continue Reading

Citations

Jan 7, 2010·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·S Pujar, V N Meyers-Wallen
Oct 19, 2011·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·V N Meyers-Wallen
Jan 21, 2011·Veterinary Pathology·M A Breshears, J L Peters
Jun 30, 2018·Reproduction in Domestic Animals = Zuchthygiene·Firdous A KhanAfroza Khanam
Aug 8, 2018·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·Lisa De LorenziPietro Parma
Sep 17, 2009·Reproduction in Domestic Animals = Zuchthygiene·V N Meyers-Wallen
May 6, 2019·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·Paulina KrzemińskaMarek Switonski
Jan 8, 2020·Analytical and Bioanalytical Chemistry·Congmin LiuMeihua Yang
Mar 21, 2015·The Veterinary Record·Luis V MonteagudoCristina Bonastre
Aug 16, 2016·Journal of Veterinary Science·Young June KimHosup Shim
Aug 14, 2018·Reproduction in Domestic Animals = Zuchthygiene·Izabela SzczerbalMarek Switonski
Jun 1, 2019·Journal of the American Veterinary Medical Association·Xavier J SchneiderJon Hill
Jan 14, 2012·Reproduction in Domestic Animals = Zuchthygiene·S Pujar, V N Meyers-Wallen
Jan 4, 2013·Reproduction in Domestic Animals = Zuchthygiene·V N Meyers-Wallen
Nov 15, 2019·Diseases of Aquatic Organisms·Raphaela StimmelmayrDavid S Rotstein
Feb 5, 2013·Journal of Applied Genetics·Ján DianovskýViera Cigánková
Jun 4, 2017·BMC Veterinary Research·Eun Jung ParkGoo Jang
Jun 27, 2019·Anais Da Academia Brasileira De Ciências·Denise M NogueiraVicki N Meyers-Wallen
Jul 14, 2019·Developmental Biology·Rachel D MullenRichard R Behringer

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