Mastrangelo S, Sottile G, Sutera A M, Di Gerlando R, Tolone M, Moscarelli A, Sardina M T, Portolano B
Dipartimento Scienze Agrarie, Alimentari e Forestali, University of Palermo, 90128, Palermo, Italy.
Dipartimento Scienze Economiche, Aziendali e Statistiche, University of Palermo, 90128, Palermo, Italy.
Anim Genet. 2018 Dec;49(6):636-640. doi: 10.1111/age.12719. Epub 2018 Aug 30.
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 F 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.
小耳畸形是一种外耳先天性畸形，其表型从耳廓较小到完全缺失（无耳畸形）不等。其遗传基础仍知之甚少，并且在绵羊身上开展的研究非常少。贝利切山谷绵羊是一种表现出小耳畸形的品种。本研究的目的是鉴定绵羊中与小耳畸形相关的潜在基因组区域。总共40只个体，20只患有小耳畸形，20只正常，用Illumina OvineSNP50基因芯片进行基因分型。全基因组关联研究、费舍尔精确检验和F分析的结果比较显示出一个单一的强关联信号：位于1号染色体上CLRN1基因第3内含子内的rs419889303。我们的研究首次表明，这个新的候选基因与绵羊的小耳畸形有关。基于测序的进一步分析将有助于证实我们的发现，并为绵羊小耳畸形提出精确的遗传基础。
