Genome-wide detection of CNVs associated with beak deformity in chickens using high-density 600K SNP arrays

文献类型： 外文期刊

第一作者： Bai, H.

作者： Bai, H.;Sun, Y.;Liu, N.;Liu, Y.;Xue, F.;Li, Y.;Xu, S.;Ni, A.;Ye, J.;Chen, J.;Chen, Y.

作者机构：

关键词： beak malformation; BJY chickens; CNV detection; SNP chip

期刊名称：ANIMAL GENETICS （ 影响因子：3.169； 五年影响因子：3.058 ）

ISSN： 0268-9146

年卷期： 2018 年 49 卷 3 期

页码：

收录情况： SCI

摘要： Beak deformity (crossed beaks) is found in several indigenous chicken breeds including Beijing-You studied here. Birds with deformed beaks have reduced feed intake and poor production performance. Recently, copy number variation (CNV) has been examined in many species and is recognized as a source of genetic variation, especially for disease phenotypes. In this study, to unravel the genetic mechanisms underlying beak deformity, we performed genome-wide CNV detection using Affymetrix chicken high-density 600K data on 48 deformed-beak and 48 normal birds using penncnv. As a result, two and eight CNV regions (CNVRs) covering 0.32 and 2.45Mb respectively on autosomes were identified in deformed-beak and normal birds respectively. Further RT-qPCR studies validated nine of the 10 CNVRs. The ratios of six CNVRs were significantly different between deformed-beak and normal birds (P<0.01). Within these six regions, three and 21 known genes were identified in deformed-beak and normal birds respectively. Bioinformatics analysis showed that these genes were enriched in six GO terms and one KEGG pathway. Five candidate genes in the CNVRs were further validated using RT-qPCR. The expression of LRIG2 (leucine rich repeats and immunoglobulin like domains 2) was lower in birds with deformed beaks (P<0.01). Therefore, the LRIG2 gene could be considered a key factor in view of its known functions and its potential roles in beak deformity. Overall, our results will be helpful for future investigations of the genomic structural variations underlying beak deformity in chickens.

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