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台湾猕猴 Macaca cyclopis 的基因组测序与应用。

Genome sequencing and application of Taiwanese macaque Macaca cyclopis.

机构信息

Genomics Research Center, Academia Sinica, Taipei, Taiwan.

Top Science Biotechnologies, Inc., 4F, 50-2 Dingping Rd., Sec. 1, Shiding District, New Taipei City, 223002, Taiwan.

出版信息

Sci Rep. 2023 Jul 17;13(1):11545. doi: 10.1038/s41598-023-38402-4.

Abstract

Formosan macaque (Macaca cyclopis) is the only non-human primate in Taiwan Island. We performed de novo hybrid assembly for M. cyclopis using Illumina paired-end short reads, mate-pair reads and Nanopore long reads and obtained 5065 contigs with a N50 of 2.66 megabases. M. cyclopis contigs >  = 10 kb were assigned to chromosomes using Indian rhesus macaque (Macaca mulatta mulatta) genome assembly Mmul_10 as reference, resulting in a draft of M. cyclopis genome of 2,846,042,475 bases, distributed in 21 chromosomes. The draft genome contains 23,462 transcriptional origins (genes), capable of expressing 716,231 exons in 59,484 transcripts. Genome-based phylogenetic study using the assembled M. cyclopis genome together with genomes of four other macaque species, human, orangutan and chimpanzee showed similar result as previously reported. However, the M. cyclopis species was found to diverge from Chinese M. mulatta lasiota about 1.8 million years ago. Fossil gene analysis detected the presence of gap and pol endogenous viral elements of simian retrovirus in all macaques tested, including M. fascicularis, M. m. mulatta and M. cyclopis. However, M. cyclopis showed ~ 2 times less in number and more uniform in chromosomal locations. The constrain in foreign genome disturbance, presumably due to geographical isolation, should be able to simplify genomics-related investigations, making M. cyclopis an ideal primate species for medical research.

摘要

台湾猕猴(Macaca cyclopis)是台湾岛唯一的非人类灵长类动物。我们使用 Illumina 配对末端短读长、mate-pair 读长和 Nanopore 长读长对 M. cyclopis 进行从头杂交组装,获得了 5065 个 contigs,N50 为 2.66 兆碱基。使用印度猕猴(Macaca mulatta mulatta)基因组组装 Mmul_10 作为参考,将 M. cyclopis contigs >  = 10 kb 分配到染色体上,得到 M. cyclopis 基因组的草图,大小为 2846042475 个碱基,分布在 21 条染色体上。该草图基因组包含 23462 个转录起始点(基因),能够在 59484 个转录本中表达 716231 个外显子。使用组装的 M. cyclopis 基因组以及其他四种猕猴、人类、猩猩和黑猩猩的基因组进行基于基因组的系统发育研究,结果与之前的报道相似。然而,M. cyclopis 物种与中国猕猴 lasiota 分化约 180 万年前。化石基因分析在所有测试的猕猴中检测到了猿猴逆转录病毒 gap 和 pol 内源性病毒元件的存在,包括 M. fascicularis、M. m. mulatta 和 M. cyclopis。然而,M. cyclopis 的数量减少了约 2 倍,并且在染色体位置上更加均匀。外来基因组干扰的限制,大概是由于地理隔离,应该能够简化与基因组相关的研究,使 M. cyclopis 成为医学研究的理想灵长类物种。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e137/10352370/a0fb9e3cdb18/41598_2023_38402_Fig1_HTML.jpg

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