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Genes2020; 11(3); 251; doi: 10.3390/genes11030251

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.

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 genes which function as ketosteroid reductases in steroid hormone biosynthesis, including androgens and estrogens. Mutations in 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.
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Publication Date: 2020-02-27 PubMed ID: 32120906PubMed Central: PMC7140900DOI: 10.3390/genes11030251Google Scholar: Lookup
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  • Non-U.S. Gov't

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This study investigates a certain genetic deletion in horses, which might be a risk factor for Disorders of Sexual Development (DSD) and reproductive issues. Researchers found that 79% of horses with this homozygous deletion in their chromosomes experienced abnormal development or reproductive problems.

Research Objective and Background

The study aimed to identify potential genetic causes for Disorders of Sexual Development (DSD) and reproductive problems in horses. It is known that these disorders are not uncommon among the horse population, though information about their molecular origins is scarce. The specific focus for this research was a ~200 kb deletion in chromosome 29, a region known to contain genes vital to steroid hormone biosynthesis, including androgens and estrogens. Similar mutations in humans have been associated with DSDs.

Methodology

  • The researchers began by studying the deletion boundaries, sequence properties, and gene content in selected horses with this homozygous deletion and control groups. This involved using Polymerase Chain Reaction (PCR) and whole genome sequencing.
  • From a sample of 940 horses, the researchers conducted deletion analysis. This sample included 622 horses with DSDs and reproductive problems and 318 normal controls.

Key Findings

  • Of the 67 horses identified with the homozygous deletion, around 79% showed abnormal traits in terms of development or reproduction.
  • The deletion was found in nearly 4% of the normal horses, 1% of global warmblood horses and ponies, and around 7% of draught breeds. These figures were derived from studying the deletion in populations using published data.
  • 8-9% of abnormal horses were homozygous for the deletion. The highest incidence (9.4%) occurred among cryptorchid horses (male horses with one or both testicles undescended).

Conclusion

The researchers concluded that the homozygous deletion in chromosome 29 could be a risk factor for equine DSDs and reproductive disorders. This conclusion is based on observing the abnormal phenotype in carrier horses, the functionally important gene content, and the relatively low incidence in the general horse population.

Cite This Article

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

Publication

Genes
ISSN: 2073-4425
NlmUniqueID: 101551097
Country: Switzerland
Language: English
Volume: 11
Issue: 3
PII: 251

Researcher Affiliations

Ghosh, Sharmila
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Davis, Brian W
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Rosengren, Maria
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, 75007 Uppsala, Sweden.
Jevit, Matthew J
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Castaneda, Caitlin
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Arnold, Carolyn
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Jaxheimer, Jay
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Love, Charles C
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Varner, Dickson D
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Lindgren, Gabriella
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, 75007 Uppsala, Sweden.
  • Livestock Genetics, Department of Biosystems, KU Leuven, 3001 Leuven, Belgium.
Wade, Claire M
  • School of Life and Environmental Sciences, The University of Sydney, NSW 2006, Australia.
Raudsepp, Terje
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.

MeSH Terms

  • Animals
  • Breeding
  • Chromosomes / genetics
  • Disorders of Sex Development / genetics
  • Disorders of Sex Development / pathology
  • Genotype
  • Gonadal Steroid Hormones / biosynthesis
  • Gonadal Steroid Hormones / genetics
  • Homozygote
  • Horses / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Reproduction / genetics
  • Reproduction / physiology
  • Risk Factors
  • Sequence Deletion / genetics
  • Sexual Development / genetics

Conflict of Interest Statement

The authors declare no competing interests.

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Citations

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