Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene

G. Eastman Welsford; Rikke Munk; Daniel A.F. Villagómez; Poul Hyttel; W. Allan King; Tamas Revay

doi:10.1159/000455114

Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene

G. Eastman Welsford, Rikke Munk, Daniel A.F. Villagómez, Poul Hyttel, W. Allan King, Tamas Revay

4 Citations (Scopus)

Abstract

Testicular feminization, an earlier term coined for describing a syndrome resulting from failure of masculinization of target organs by androgen secretions during embryo development, has been well documented not only in humans but also in the domestic horse. The pathology, actually referred to as androgen insensitivity syndrome (AIS), has been proposed to follow an X-linked recessive pattern of inheritance in some horse breeds already investigated. Affected individuals are characterized by a female phenotype but with a stallion genotype of 64,XY SRY+ constitution. We identified a Warmblood horse pedigree segregating AIS, where the molecular analyses of the androgen receptor gene in the family provided evidences that a 25-bp deletion of the DNA-binding domain is causative of this equine syndrome.

Original language	English
Journal	Sexual Development
Volume	11
Issue number	1
Pages (from-to)	40-45
Number of pages	6
ISSN	1661-5425
DOIs	https://doi.org/10.1159/000455114
Publication status	Published - 2017

Keywords

Androgen insensitivity syndrome
Androgen receptor gene
AR deletion
Horse
XY-DSD

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10.1159/000455114

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title = "Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene",

abstract = "Testicular feminization, an earlier term coined for describing a syndrome resulting from failure of masculinization of target organs by androgen secretions during embryo development, has been well documented not only in humans but also in the domestic horse. The pathology, actually referred to as androgen insensitivity syndrome (AIS), has been proposed to follow an X-linked recessive pattern of inheritance in some horse breeds already investigated. Affected individuals are characterized by a female phenotype but with a stallion genotype of 64,XY SRY+ constitution. We identified a Warmblood horse pedigree segregating AIS, where the molecular analyses of the androgen receptor gene in the family provided evidences that a 25-bp deletion of the DNA-binding domain is causative of this equine syndrome.",

keywords = "Androgen insensitivity syndrome, Androgen receptor gene, AR deletion, Horse, XY-DSD",

author = "{Eastman Welsford}, G. and Rikke Munk and Villag{\'o}mez, {Daniel A.F.} and Poul Hyttel and {Allan King}, W. and Tamas Revay",

year = "2017",

doi = "10.1159/000455114",

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journal = "Sexual Development",

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T1 - Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene

AU - Eastman Welsford, G.

AU - Munk, Rikke

AU - Villagómez, Daniel A.F.

AU - Hyttel, Poul

AU - Allan King, W.

AU - Revay, Tamas

PY - 2017

Y1 - 2017

N2 - Testicular feminization, an earlier term coined for describing a syndrome resulting from failure of masculinization of target organs by androgen secretions during embryo development, has been well documented not only in humans but also in the domestic horse. The pathology, actually referred to as androgen insensitivity syndrome (AIS), has been proposed to follow an X-linked recessive pattern of inheritance in some horse breeds already investigated. Affected individuals are characterized by a female phenotype but with a stallion genotype of 64,XY SRY+ constitution. We identified a Warmblood horse pedigree segregating AIS, where the molecular analyses of the androgen receptor gene in the family provided evidences that a 25-bp deletion of the DNA-binding domain is causative of this equine syndrome.

AB - Testicular feminization, an earlier term coined for describing a syndrome resulting from failure of masculinization of target organs by androgen secretions during embryo development, has been well documented not only in humans but also in the domestic horse. The pathology, actually referred to as androgen insensitivity syndrome (AIS), has been proposed to follow an X-linked recessive pattern of inheritance in some horse breeds already investigated. Affected individuals are characterized by a female phenotype but with a stallion genotype of 64,XY SRY+ constitution. We identified a Warmblood horse pedigree segregating AIS, where the molecular analyses of the androgen receptor gene in the family provided evidences that a 25-bp deletion of the DNA-binding domain is causative of this equine syndrome.

KW - Androgen insensitivity syndrome

KW - Androgen receptor gene

KW - AR deletion

KW - Horse

KW - XY-DSD

U2 - 10.1159/000455114

DO - 10.1159/000455114

M3 - Journal article

C2 - 28192783

AN - SCOPUS:85013130954

SN - 1661-5425

VL - 11

SP - 40

EP - 45

JO - Sexual Development

JF - Sexual Development

IS - 1

ER -

Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene

Abstract

Keywords

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