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Prevalence of the AMHR 2 mutation in Miniature Schnauzers and genetic investigation of a Belgian Malinois with persistent Müllerian duct syndrome
Author(s) -
Smit MM,
Ekenstedt KJ,
Minor KM,
Lim CK,
Leegwater PAJ,
Furrow E
Publication year - 2018
Publication title -
reproduction in domestic animals
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.546
H-Index - 66
eISSN - 1439-0531
pISSN - 0936-6768
DOI - 10.1111/rda.13116
Subject(s) - anti müllerian hormone , biology , genetics , allele , genetic testing , genotype , mutation , allele frequency , medicine , endocrinology , gene , hormone
Contents Persistent Müllerian duct syndrome ( PMDS ) is a sex‐limited disorder in which males develop portions of the female reproductive tract. Important consequences of PMDS are cryptorchidism and its sequelae of infertility and increased risk of testicular cancer. Anti‐Müllerian hormone ( AMH ) and its receptor ( AMHR 2) induce the regression of the Müllerian ducts in male embryos. In Miniature Schnauzer dogs, the genetic basis has been identified as an autosomal recessive nonsense mutation in AMHR 2 , but the allele frequency of the mutation is unknown. Thus, the primary objective of this study was to estimate the prevalence of the AMHR 2 mutation in North American Miniature Schnauzers, in order to ascertain the value of genetic testing in this breed. An additional objective was to determine whether mutations in AMH or AMHR 2 were responsible for PMDS in a Belgian Malinois; this would aid development of a genetic test for the Belgian Malinois breed. Genomic DNA from 216 Miniature Schnauzers (including one known PMDS case) was genotyped for the AMHR 2 mutation, and DNA from a single PMDS ‐affected Belgian Malinois was sequenced for all coding exons of AMH and AMHR 2 . The Miniature Schnauzer cohort had an AMHR 2 mutation allele frequency of 0.16 and a carrier genotypic frequency of 0.27. The genetic basis for PMDS in the Belgian Malinois was not determined, as no coding or splicing mutations were identified in either AMH or AMHR 2 . These findings support a benefit to AMHR 2 mutation testing Miniature Schnauzers used for breeding or with cryptorchidism.