Molecular analysis of 60,XX pseudohermaphrodite polled goats for the presence of SRY and ZFY genes

Abstract

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.