Pailhoux E, Cribiu E P, Chaffaux S, Darre R, Fellous M, Cotinot C
Institut National de la Recherche Agronomique, Centre de Recherches de Jouy-en-Josas, France.
J Reprod Fertil. 1994 Mar;100(2):491-6. doi: 10.1530/jrf.0.1000491.
The polled mutation is characterized by a recessive, incompletely penetrant, hermaphroditic effect associated with the dominant genetic factor responsible for polledness in breeds of goat. The present study describes the external morphology, anatomy of the reproductive tract, histology, chromosomal constitution and Y chromosome screening of three intersex polled goats. The animals were tested for different Y-specific sequences, including SRY and ZFY. Using Southern blot and PCR amplification, no Y-derived sequences were detected in DNA from three 60,XX pseudohermaphrodite goats. This, therefore, excludes Y chromosome translocation and XX/XY chimaerism and mosaicism. This recessive mutation leading to sex reversal might be used to map and ultimately clone the autosomal genes implicated in the sex-determining pathway.
无角突变的特征是与山羊品种中导致无角的显性遗传因子相关的隐性、不完全显性、雌雄同体效应。本研究描述了三只间性无角山羊的外部形态、生殖道解剖结构、组织学、染色体组成和Y染色体筛查。对这些动物进行了不同Y特异性序列的检测,包括SRY和ZFY。使用Southern印迹法和PCR扩增,在三只60,XX假两性畸形山羊的DNA中未检测到Y衍生序列。因此,这排除了Y染色体易位以及XX/XY嵌合体和镶嵌现象。这种导致性反转的隐性突变可用于定位并最终克隆参与性别决定途径的常染色体基因。