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Open AccessArticle

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

1
College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA
2
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, 75007 Uppsala, Sweden
3
Livestock Genetics, Department of Biosystems, KU Leuven, 3001 Leuven, Belgium
4
School of Life and Environmental Sciences, The University of Sydney, NSW 2006, Australia
*
Author to whom correspondence should be addressed.
Equal contribution.
Genes 2020, 11(3), 251; https://doi.org/10.3390/genes11030251
Received: 17 January 2020 / Revised: 21 February 2020 / Accepted: 25 February 2020 / Published: 27 February 2020
(This article belongs to the Special Issue Genomics of Sexual Development and Reproduction in Mammals)
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. View Full-Text
Keywords: horse; disorders of sex development; cryptorchidism; reproduction; CNV; ECA29; steroid hormone; AKR1C horse; disorders of sex development; cryptorchidism; reproduction; CNV; ECA29; steroid hormone; AKR1C
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MDPI and ACS Style

Ghosh, S.; Davis, B.W.; Rosengren, M.; Jevit, M.J.; Castaneda, C.; Arnold, C.; Jaxheimer, J.; Love, C.C.; Varner, D.D.; Lindgren, G.; Wade, C.M.; Raudsepp, T. 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 2020, 11, 251. https://doi.org/10.3390/genes11030251

AMA Style

Ghosh S, Davis BW, Rosengren M, Jevit MJ, Castaneda C, Arnold C, Jaxheimer J, Love CC, Varner DD, Lindgren G, Wade CM, Raudsepp T. 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. 2020; 11(3):251. https://doi.org/10.3390/genes11030251

Chicago/Turabian Style

Ghosh, Sharmila; Davis, Brian W.; Rosengren, Maria; Jevit, Matthew J.; Castaneda, Caitlin; Arnold, Carolyn; Jaxheimer, Jay; Love, Charles C.; Varner, Dickson D.; Lindgren, Gabriella; Wade, Claire M.; 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, no. 3: 251. https://doi.org/10.3390/genes11030251

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