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通过芯片比较基因组杂交技术探索兔(Oryctolagus cuniculus)基因组中的拷贝数变异。

Exploring copy number variation in the rabbit (Oryctolagus cuniculus) genome by array comparative genome hybridization.

机构信息

Department of Agro-Food Science and Technology, Sezione di Allevamenti Zootecnici, University of Bologna, Viale Fanin 48, 40127 Bologna, Italy.

出版信息

Genomics. 2012 Oct;100(4):245-51. doi: 10.1016/j.ygeno.2012.07.001. Epub 2012 Jul 16.

Abstract

The European rabbit (Oryctolagus cuniculus) is relevant in a large spectrum of fields: it is a livestock, a pet, a biomedical model and a biotechnology tool, a wild resource and a pest. The sequencing of the rabbit genome has opened new perspectives to study this lagomorph at the genome level. We herein investigated for the first time the O. cuniculus genome by array comparative genome hybridization (aCGH) and established a first copy number variation (CNV) genome map in this species comprising 155 copy number variation regions (CNVRs; 95 gains, 59 losses, 1 with both gain and loss) covering ~0.3% of the OryCun2.0 version. About 50% of the 155 CNVRs identified spanned 139 different protein coding genes, 110 genes of which were annotated or partially annotated (including Major Histocompatibility Complex genes) with 277 different gene ontology terms. Many rabbit CNVRs might have a functional relevance that should be further investigated.

摘要

欧洲兔(Oryctolagus cuniculus)在多个领域都具有重要意义:它是一种家畜、宠物、生物医学模型和生物技术工具,也是一种野生资源和害虫。兔基因组的测序为在基因组水平上研究这种兔形目动物开辟了新的视角。我们首次通过阵列比较基因组杂交(aCGH)研究了 O. cuniculus 基因组,并在该物种中建立了第一个拷贝数变异(CNV)基因组图谱,包括 155 个拷贝数变异区(CNVRs;95 个增益、59 个缺失、1 个增益和缺失),覆盖了 OryCun2.0 版本的约 0.3%。鉴定的 155 个 CNVR 中约有 50%跨越了 139 个不同的蛋白质编码基因,其中 110 个基因被注释或部分注释(包括主要组织相容性复合体基因),涉及 277 个不同的基因本体术语。许多兔 CNVR 可能具有功能相关性,需要进一步研究。

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