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Genome-wide association study reveals the locus responsible for microtia in Valle del Belice sheep breed

S Mastrangelo1, G Sottile2, A M Sutera1

  • 1Dipartimento Scienze Agrarie, Alimentari e Forestali, University of Palermo, 90128, Palermo, Italy.

Animal Genetics
|August 31, 2018
PubMed

Insights

Researchers identified a novel gene, CLRN1, linked to microtia (outer ear deformity) in Valle del Belice sheep. This finding offers new insights into the genetic causes of this congenital condition.

Area of Science:

  • Genetics
  • Animal Science
  • Developmental Biology

Background:

  • Microtia is a congenital outer ear deformity with poorly understood genetic underpinnings.
  • Limited research exists on the genetic basis of microtia in sheep breeds.
  • The Valle del Belice sheep breed exhibits a notable prevalence of microtia.

Purpose of the Study:

  • To identify potential genomic regions associated with microtia in sheep.
  • To investigate the genetic factors contributing to outer ear malformations in the Valle del Belice breed.

Main Methods:

  • Genome-wide association study (GWAS) on 40 Valle del Belice sheep (20 affected, 20 normal).
  • Genotyping using the Illumina OvineSNP50 BeadChip.
  • Statistical analyses including Fisher's exact test and FST to pinpoint significant genetic markers.

Main Results:

  • A single strong association signal was detected on chromosome 1 at marker rs419889303.
  • This marker is located within intron 3 of the CLRN1 gene.
  • The CLRN1 gene is proposed as a novel candidate gene responsible for microtia in sheep.

Conclusions:

  • The CLRN1 gene is implicated as a potential genetic cause of microtia in Valle del Belice sheep.
  • This study provides the first evidence linking CLRN1 to microtia in this breed.
  • Further sequencing analysis is recommended to confirm these findings and elucidate the precise genetic basis.
Keywords:
F STCLRN1 geneFisher's testear sizegenome-wide association studiesovine

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