6533b7d4fe1ef96bd1263227

RESEARCH PRODUCT

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

R. Di GerlandoGianluca SottileMaria Teresa SardinaMarco ToloneSalvatore MastrangeloAnna Maria SuteraAngelo MoscarelliBaldassare Portolano

subject

0301 basic medicineCandidate geneGenotypeSheep Diseasesfisher's testLocus (genetics)Genome-wide association studyBiologyBreedingPolymorphism Single NucleotideCLRN1 geneear size03 medical and health sciencesSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoCLRN1 gene fisher's test F-ST genome-wide association studies ear size ovineGeneticsmedicineAnimalsGenetic Association StudiesSheep DomesticCongenital MicrotiaGeneticsSheepF-STMicrotia0402 animal and dairy scienceMembrane ProteinsCLRN1 gene Fisher’s test FST genome-wide association studies ear size ovine04 agricultural and veterinary sciencesGeneral Medicinemedicine.disease040201 dairy & animal scienceBreedCLRN1 geneovineExact test030104 developmental biologyAnotiagenome-wide association studiesAnimal Science and Zoology

description

Microtia is a congenital deformity of the outer ear with phenotypes varying from a small auricle to total absence (anotia). The genetic basis is still poorly understood, and very few studies have been performed in sheep. Valle del Belice sheep is a breed showing microtia. The aim of this study was to identify the potential genomic regions involved in microtia in sheep. A total of 40 individuals, 20 with microtia and 20 normal, were genotyped with the Illumina OvineSNP50 BeadChip. The comparison among the results from a genome-wide association study, Fisher's exact test and FST analysis revealed a single strong association signal: rs419889303 on chromosome 1, located within intron 3 of the CLRN1 gene. Our study suggests for the first time that this novel candidate gene is responsible for microtia in sheep. Additional analysis based on the sequencing would help confirm our findings and allow for the proposal of a precise genetic basis for microtia in sheep.

yearjournalcountryeditionlanguage
2018-01-01Animal genetics
10.1111/age.12719https://pubmed.ncbi.nlm.nih.gov/30160299