Molecular and cytogenetic studies in a case of XX SRY -Negative sex reversal in an Arabian horse

F. Ciotola; S. Albarella; M. P. Pasolini; L. Auletta; L. Esposito; L. Iannuzzi; Vincenzo Peretti

doi:10.1159/000331480

Molecular and cytogenetic studies in a case of XX SRY -Negative sex reversal in an Arabian horse

F. Ciotola, S. Albarella, M. P. Pasolini, L. Auletta, L. Esposito, L. Iannuzzi, Vincenzo Peretti

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Abstract

An 18-month-old Arabian foal characterized by a stallionlike appearance was submitted for cytogenetic and molecular genetics examinations due to abnormalities of external genitalia and the presence of ovotestis-like structures in the abdominal cavity. By RB-banding the animal showed the normal female equine karyotype (2n = 64,XX). Molecular analysis revealed the absence of the SRY and ZFY genes and the presence of ZFX , a typical female equine condition. The entire RSPO1 coding region was examined to exclude its involvement. Although a SNP was found in exon 3, it was not responsible for an amino acid substitution.

Original language	English
Pages (from-to)	104-107
Number of pages	4
Journal	Sexual Development
Volume	6
Issue number	1-3
DOIs	https://doi.org/10.1159/000331480
Publication status	Published - Feb 2012

Keywords

Arabian horse
RSPO1
Sex reversal syndrome
SRY
ZFX/ZFY

ASJC Scopus subject areas

Developmental Biology
Embryology
Endocrinology, Diabetes and Metabolism
Medicine(all)

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AU - Ciotola, F.

AU - Albarella, S.

AU - Pasolini, M. P.

AU - Auletta, L.

AU - Esposito, L.

AU - Iannuzzi, L.

AU - Peretti, Vincenzo

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Molecular and cytogenetic studies in a case of XX SRY -Negative sex reversal in an Arabian horse

Abstract

Keywords

ASJC Scopus subject areas

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