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Related Experiment Video

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Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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Genome-wide association scan suggests basis for microtia in Awassi sheep.

K Jawasreh1, P J Boettcher2, A Stella3,4

  • 1Animal Breeding and Genetics, Department of Animal Production, Faculty of Agriculture, Jordan University of Science and Technology (JUST), Irbid, Jordan.

Animal Genetics
|March 19, 2016
PubMed
Summary

Genetic research in Awassi sheep identified a significant association between a specific SNP on OAR23 and microtia, a hereditary ear underdevelopment. This finding may explain the condition in various sheep breeds, suggesting an ancient mutation.

Keywords:
Jordanearlessnessgenome-wide association studyovine

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Area of Science:

  • Genetics
  • Animal Science
  • Developmental Biology

Background:

  • Hereditary underdevelopment of the ear, or microtia, is observed in various species, including sheep, but its genetic basis remains unknown.
  • The Awassi sheep breed exhibits this phenotype, making it a suitable model for genetic investigation.

Purpose of the Study:

  • To identify the genetic cause of microtia in Awassi sheep.
  • To investigate the potential shared genetic basis for microtia across different sheep breeds.

Main Methods:

  • A genome-wide association study (GWAS) was conducted using DNA samples from affected and normal Awassi sheep.
  • Genotyping was performed using the Illumina OvineSNP50 chip, followed by single-locus and multilocus analyses.

Main Results:

  • Multilocus analyses did not reveal any significant genotypic associations.
  • A single-locus analysis identified a statistically significant association (P=0.012) with a SNP on OAR23 (basepair 34,647,499).
  • This associated SNP is located near the GATA-6 gene, crucial for developmental processes like chondrogenesis.

Conclusions:

  • A specific genetic marker on OAR23 is strongly associated with microtia in Awassi sheep.
  • The mutation is estimated to be approximately 3000 years old, suggesting it may be the causative mutation in other earless sheep breeds.
  • This discovery provides insight into the genetic underpinnings of microtia and its potential prevalence in related sheep populations.