蒙古马基因组拷贝数变异的研究

Study on Genome Copy Number Variation In Mongolia Horse

拷贝数变异(copy number variation,CNV)在人类和动物基因组中普遍存在,是重要的遗传变异资源。本试验利用比较基因组杂交(comparative genomic hybridization,CGH)芯片对2匹蒙古马和1匹纯血马进行全基因组CNV检测,共检测到210个CNVs,长度6 109bp至571.87kb,平均值为37.81kb,中值为14.45kb。合并重叠的CNVs,共检测到70个CNV区域(CNV region,CNVR),大小从6 151bp至573.59kb,平均值和中值分别为38.93和14.45kb,总长度为6.19Mb。经CNV基因注释和功能分析发现,大部分基因与嗅觉受体活性、嗅觉感官知觉、化学刺激的感官知觉、识别和嗅觉传导等功能相关。对5个CNVRs进行qPCR检验,83.33%的qPCR结果与CGH芯片结果一致。通过对蒙古马基因组拷贝数变异的研究,证明CNV在马基因组中普遍存在,为揭示马基因组CNV与重要生物性状的关联性及品种改良奠定了基础。

Copy number variation（CNV）is widespread in human and animal genomes and is a significant source of genetic variation.In this study,we investigated genome-wide characteristics of CNVs in 2 Mongolia horses and 1Thoroughbredby using the comparative genomic hybridization（CGH）array method.In total,210 CNVs were indentified ranging in size from 6 109 bp to571.87 kb,with an average size of 37.81 kb and a median size of 14.45 kb.By merging overlapping CNVs,we found a total of seventy CNV regions（CNVRs）.The length of the CNVRs ranged from 6 151 bp to 573.59 kb with average and median sizes of 38.93 and 14.45 kb and the summary size of CNVRs was 6.19 Mb.CNV gene annotated and functional analysed indicated that the most gene involved olfactory receptor activity,sensory perception of smell,sensory perception of chemical stimulus,sensory perception,cognition and olfactory transduction.To comfirm these findings,quantitave PCR（qPCR）was performed for 5CNVRs,and found 83.33% of the qPCR results were consistent with the CGH chip.We performed the genome-wide detection of copy number variations in Mongolia horses,and which indicated that CNV was ubiquitous in the horse genome.This research provided foundation for studying the association between the horse CNV and important biological traits.