Journal of Andrology
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Published-Ahead-of-Print August 21, 2008, DOI:10.2164/jandrol.108.005736

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A Single Base Pair Mutation Encoding a Premature Stop Codon in the MIS type II receptor is Responsible for Canine Persistent Müllerian Duct Syndrome

Xiufeng Wu , Shengqin Wan , Shashikant Pujar , Mark E Haskins , Donald H Schlafer , Mary M Lee , and Vicki N. Meyers-Wallen *

* To whom correspondence should be addressed. E-mail: vnm1{at}cornell.edu.

Müllerian Inhibiting Substance (MIS), a secreted glycoprotein in the Transforming Growth Factor-beta (TGF-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 intracellular signaling domains. Findings in this model may enable insights to be garnered from correlation of detailed clinical descriptions with molecular defects, which are not otherwise possible in the human syndrome.


Key words: Intersex • AMh type II receptor • Anti-Mullerian hormone • MIS type II receptor • Mullerian duct regression • dog




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M. A. Breshears and J. L. Peters
Ambiguous Genitalia in a Fertile, Unilaterally Cryptorchid Male Miniature Schnauzer Dog
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[Abstract] [Full Text] [PDF]


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