通过 array CGH 和定量 PCR 鉴定相对于其他灵长类动物的人类特异性基因重复。

Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR.

机构信息

Department of Animal Biology, Plant Biology and Ecology, Faculty of Biosciences, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain.

出版信息

Genomics. 2010 Apr;95(4):203-9. doi: 10.1016/j.ygeno.2010.02.003. Epub 2010 Feb 11.

DOI:10.1016/j.ygeno.2010.02.003

PMID:20153417

Abstract

In order to identify human lineage specific (HLS) copy number differences (CNDs) compared to other primates, we performed pair wise comparisons (human vs. chimpanzee, gorilla and orangutan) by using cDNA array comparative genomic hybridization (CGH). A set of 23 genes with HLS duplications were identified, as well as other lineage differences in gene copy number specific of chimpanzee, gorilla and orangutan. Each species has gained more copies of specific genes rather than losing gene copies. Eleven of the 23 genes have only been observed to have undergone HLS duplication in Fortna et al. (2004) and in the present study. Then, seven of these 11 genes were analyzed by quantitative PCR in chimpanzee, gorilla and orangutan, as well as in other six primate species (Hylobates lar, Cercopithecus aethiops, Papio hamadryas, Macaca mulatta, Lagothrix lagothricha, and Saimiri sciureus). Six genes confirmed array CGH data, and four of them appeared to have bona fide HLS duplications (ABCB10, E2F6, CDH12, and TDG genes). We propose that these gene duplications have a potential to contribute to specific human phenotypes.

摘要

为了鉴定与其他灵长类动物相比人类谱系特异性（HLS）的拷贝数差异（CND），我们使用 cDNA 微阵列比较基因组杂交（CGH）进行了两两比较（人与黑猩猩、大猩猩和猩猩）。确定了一组具有 HLS 重复的 23 个基因，以及黑猩猩、大猩猩和猩猩特有的基因拷贝数的其他谱系差异。每个物种都获得了更多特定基因的拷贝，而不是失去基因拷贝。在 Fortna 等人的研究中，23 个基因中有 11 个仅观察到 HLS 重复。然后，在黑猩猩、大猩猩和猩猩中以及其他六种灵长类动物（长臂猿、黑猩猩、狒狒、猕猴、毛耳狨和松鼠猴）中通过定量 PCR 分析了其中的 7 个基因。6 个基因证实了阵列 CGH 数据，其中 4 个基因似乎具有真正的 HLS 重复（ABCB10、E2F6、CDH12 和 TDG 基因）。我们提出这些基因重复有可能为人类特定表型做出贡献。