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

IRCCS SDN

Research output: Contribution to journal › Article › peer-review

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)

Access to Document

10.1159/000331480

Cite this

@article{75db6b1946f044919c3bb4a7e8c6bb75,

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

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.",

keywords = "Arabian horse, RSPO1, Sex reversal syndrome, SRY, ZFX/ZFY",

author = "F. Ciotola and S. Albarella and Pasolini, {M. P.} and L. Auletta and L. Esposito and L. Iannuzzi and Vincenzo Peretti",

year = "2012",

month = feb,

doi = "10.1159/000331480",

language = "English",

volume = "6",

pages = "104--107",

journal = "Sexual Development",

issn = "1661-5425",

publisher = "S. Karger AG",

number = "1-3",

}

TY - JOUR

T1 - Molecular and cytogenetic studies in a case of XX SRY -Negative sex reversal in an Arabian horse

AU - Ciotola, F.

AU - Albarella, S.

AU - Pasolini, M. P.

AU - Auletta, L.

AU - Esposito, L.

AU - Iannuzzi, L.

AU - Peretti, Vincenzo

PY - 2012/2

Y1 - 2012/2

N2 - 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.

AB - 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.

KW - Arabian horse

KW - RSPO1

KW - Sex reversal syndrome

KW - SRY

KW - ZFX/ZFY

UR - http://www.scopus.com/inward/record.url?scp=84857367861&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84857367861&partnerID=8YFLogxK

U2 - 10.1159/000331480

DO - 10.1159/000331480

M3 - Article

C2 - 22025175

AN - SCOPUS:84857367861

VL - 6

SP - 104

EP - 107

JO - Sexual Development

JF - Sexual Development

SN - 1661-5425

IS - 1-3

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this