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Characterization of a Homozygous Deletion of Steroid Hormone Biosynthesis Genes in Horse Chromosome 29 as a Risk Factor for Disorders of Sex Development and Reproduction

Ghosh, Sharmila and Davis, Brian W. and Rosengren, Maria and Jevit, Matthew J. and Castaneda, Caitlin and Arnold, Carolyn and Jaxheimer, Jay and Love, Charles C. and Varner, Dickson D. and Lindgren, Gabriella and Wade, Claire M. and Raudsepp, Terje (2020). Characterization of a Homozygous Deletion of Steroid Hormone Biosynthesis Genes in Horse Chromosome 29 as a Risk Factor for Disorders of Sex Development and Reproduction. Genes. 11 , 251 , 1-15
[Journal article]

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Abstract

Disorders of sex development (DSD) and reproduction are not uncommon among horses, though knowledge about their molecular causes is sparse. Here we characterized a 200 kb homozygous deletion in chromosome 29 at 29.7-29.9 Mb. The region contains AKR1C genes which function as ketosteroid reductases in steroid hormone biosynthesis, including androgens and estrogens. Mutations in AKR1C genes are associated with human DSDs. Deletion boundaries, sequence properties and gene content were studied by PCR and whole genome sequencing of select deletion homozygotes and control animals. Deletion analysis by PCR in 940 horses, including 622 with DSDs and reproductive problems and 318 phenotypically normal controls, detected 67 deletion homozygotes of which 79% were developmentally or reproductively abnormal. Altogether, 8-9% of all abnormal horses were homozygous for the deletion, with the highest incidence (9.4%) among cryptorchids. The deletion was found in 4% of our phenotypically normal cohort, 1% of global warmblood horses and ponies, and 7% of draught breeds of general horse population as retrieved from published data. Based on the abnormal phenotype of the carriers, the functionally relevant gene content, and the low incidence in general population, we consider the deletion in chromosome 29 as a risk factor for equine DSDs and reproductive disorders.

Authors/Creators:Ghosh, Sharmila and Davis, Brian W. and Rosengren, Maria and Jevit, Matthew J. and Castaneda, Caitlin and Arnold, Carolyn and Jaxheimer, Jay and Love, Charles C. and Varner, Dickson D. and Lindgren, Gabriella and Wade, Claire M. and Raudsepp, Terje
Title:Characterization of a Homozygous Deletion of Steroid Hormone Biosynthesis Genes in Horse Chromosome 29 as a Risk Factor for Disorders of Sex Development and Reproduction
Year of publishing :2020
Volume:11
Article number:251
Number of Pages:15
Publisher:MDPI
ISSN:2073-4425
Language:English
Publication Type:Journal article
Article category:Scientific peer reviewed
Version:Published version
Copyright:Creative Commons: Attribution 4.0
Full Text Status:Public
Subjects:(A) Swedish standard research categories 2011 > 4 Agricultural Sciences > 402 Animal and Dairy Science > Animal and Dairy Science.
Keywords:horse, disorders of sex development, cryptorchidism, reproduction, CNV, ECA29, steroid hormone, AKR1C
URN:NBN:urn:nbn:se:slu:epsilon-p-105852
Permanent URL:
http://urn.kb.se/resolve?urn=urn:nbn:se:slu:epsilon-p-105852
Additional ID:
Type of IDID
DOI10.3390/genes11030251
Web of Science (WoS)000529189000015
ID Code:17150
Faculty:VH - Faculty of Veterinary Medicine and Animal Science
Department:(VH) > Dept. of Animal Breeding and Genetics
Deposited By: SLUpub Connector
Deposited On:29 Jun 2020 07:06
Metadata Last Modified:29 Jun 2020 07:06

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