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BMC genomics2018; 19(1); 492; doi: 10.1186/s12864-018-4877-5

Genome data uncover four synergistic key regulators for extremely small body size in horses.

Abstract: Miniature size in horses represents an extreme reduction of withers height that originated after domestication. In some breeds, it is a highly desired trait representing a breed- or subtype-specific feature. The genomic changes that emerged due to strong-targeted selection towards this distinct type remain unclear. Results: Comparisons of whole-genome sequencing data from two Miniature Shetland ponies and one standard-sized Shetland pony, performed to elucidate genetic determinants for miniature size, revealed four synergistic variants, limiting withers height to 34.25 in. (87 cm). Runs of homozygosity regions were detected spanning these four variants in both the Miniature Shetland ponies and the standard-sized Shetland pony. They were shown to be characteristic of the Shetland pony breed, resulting in a miniature type under specific genotypic combinations. These four genetic variants explained 72% of the size variation among Shetland ponies and related breeds. The length of the homozygous regions indicate that they arose over 1000 years ago. In addition, a copy number variant was identified in DIAPH3 harboring a loss exclusively in ponies and donkeys and thus representing a potential height-associated variant. Conclusions: This study reveals main drivers for miniature size in horses identified in whole genome data and thus provides relevant candidate genes for extremely short stature in mammals.
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Publication Date: 2018-06-25 PubMed ID: 29940849PubMed Central: PMC6019228DOI: 10.1186/s12864-018-4877-5Google Scholar: Lookup
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  • Journal Article

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.

The research article investigates the genetic factors that contribute to the smaller size of some horse breeds, specifically miniature Shetland ponies. It has identified four key genetic variants that work together to limit height in these animals, explaining 72% of the size variation in ponies and related breeds.

Objective and Methodology

  • The main objective of this study was to understand the genetic alterations responsible for the extremely reduced body size (withers height) in horses, particularly in miniature Shetland ponies. This was achieved through a comparative analysis of whole-genome sequencing data.
  • The researchers collected the genome data from two miniature Shetland ponies and one standard-sized Shetland pony for analysis.

Key Findings

  • The researchers identify four key genetic variants that act synergistically to limit the withers height of the ponies, restricting it to around 34.25 inches (or 87 centimeters).
  • These variants were found in both miniatures and standard-sized Shetland Ponies. The specific combination of these variants resulted in the miniature ponies.
  • These four genetic variants contribute to almost 72% of the variation in size among Shetland ponies and related breeds.
  • Homozygous regions, areas where both pairs of the ponies’ chromosomes had identical genetic information, were detected spanning these four variants.
  • The length of these homozygous regions suggests that these genetic variants arose more than a thousand years ago.
  • Another significant finding was the discovery of a copy number variant in DIAPH3, suggesting a loss that occurs exclusively in ponies and donkeys, thereby indicating another potential height-associated variant.

Conclusions

  • This study reveals insight into the main genetic factors responsible for reduced body size in horses, and in particular, extended our understanding of the miniature stature in the Shetland pony breed.
  • The findings provide relevant candidate genes for further study on determination of body size in mammals.
  • The genetic variants revealed in this study might have potential applications in further understanding human short stature syndromes as well.

Cite This Article

APA
Metzger J, Rau J, Naccache F, Bas Conn L, Lindgren G, Distl O. (2018). Genome data uncover four synergistic key regulators for extremely small body size in horses. BMC Genomics, 19(1), 492. https://doi.org/10.1186/s12864-018-4877-5

Publication

BMC genomics
ISSN: 1471-2164
NlmUniqueID: 100965258
Country: England
Language: English
Volume: 19
Issue: 1
Pages: 492
PII: 492

Researcher Affiliations

Metzger, Julia
  • Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, 30559, Hannover, Germany.
Rau, Janina
  • Unit of Reproductive Medicine of the Clinics, University of Veterinary Medicine Hannover, 30559, Hannover, Germany.
Naccache, Fanny
  • Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, 30559, Hannover, Germany.
Bas Conn, Laura
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, 75007, Uppsala, Sweden.
Lindgren, Gabriella
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, 75007, Uppsala, Sweden.
Distl, Ottmar
  • Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, 30559, Hannover, Germany. ottmar.distl@tiho-hannover.de.

MeSH Terms

  • Animals
  • Body Size / genetics
  • Body Size / physiology
  • Equidae
  • Genomics / methods
  • Genotype
  • High-Throughput Nucleotide Sequencing / methods
  • Horses
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics

Conflict of Interest Statement

ETHICS APPROVAL: All animal work has been conducted according to the national and international guidelines for animal welfare. The EDTA-blood sampling was approved by the Institutional Animal Care and Use Committee (IACUC), the Lower Saxony state veterinary office at the Niedersächsisches Landesamt für Verbraucherschutz und Lebensmittelsicherheit, Oldenburg, Germany (registration number 33.19–42,502-05-16A042). In addition, hair root sampling of Swedish Shetland ponies was approved by the Ethics Committee for Animal Experiments in Uppsala, Sweden (number C121/14). CONSENT FOR PUBLICATION: Written informed approval was acquired from the horse owners and breeders to collect samples and measurements for current research, publication and further investigations. COMPETING INTERESTS: The authors declare that they have no competing interests. PUBLISHER’S NOTE: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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