A 5-year-old Thoroughbred mare was subjected to cytogenetic and molecular analysis because of infertility and masculine behaviour. Chromosome studies, including painting with the whole X chromosome specific probe, revealed a male chromosome complement (64,XY).
The PCR amplification of the SRY and ZFY genes showed the presence of both those genes, while the endocrinological study demonstrated a high level of testosterone (9.7 nmol/l).
Sequencing of the SRY gene (1121 bp), comprising also 5`- and 3`-UTRs, did not reveal any differences when compared with the sequence of normal stallions.
It was proposed that this mare represents the androgen insensitivity syndrome (testicular feminization syndrome).
Source: Switonski, M., Chmurzynska, A., Szczerbal, I., Lipczynski, A., Yang, F. & Nowicka-Posuszna, A. (2005): Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour. In: Journal of Animal Breeding and Genetics 122 (s1), 60-63.
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