Hayakawa Takashi, Kishida Takushi, Go Yasuhiro, Inoue Eiji, Kawaguchi Eri, Aizu Tomoyuki, Ishizaki Hinako, Toyoda Atsushi, Fujiyama Asao, Matsuzawa Tetsuro, Hashimoto Chie, Furuichi Takeshi, Agata Kiyokazu
Faculty of Environmental Earth Science, Hokkaido University, Sapporo, Hokkaido, Japan.
College of Bioresource Sciences, Nihon University, Fujisawa, Kanagawa, Japan.
Sci Rep. 2025 Jan 2;15(1):548. doi: 10.1038/s41598-024-84163-z.
Analysis of genome-scale evolution has been difficult in large, endangered animals because opportunities to collect high-quality genetic samples are limited. There is a need for novel field-friendly, cost-effective genetic techniques. This study conducted an exome-wide analysis of a total of 42 chimpanzees (Pan troglodytes) across six African regions, providing insights into population discrimination techniques. Wild chimpanzee DNA was extracted noninvasively from collected fecal samples using the lysis-buffer storage method. To target genome-scale regions of host DNA, exome-capture sequencing was performed using cost-effective baits originally designed for humans (closely related to chimpanzees). Multivariate analysis effectively discriminated differences in local populations, aiding in the identification of samples' geographical origins. Exome-wide heterozygosity was negatively correlated significantly with genome-wide nonsynonymous-synonymous substitution ratios, suggesting that mutation loads exist at the local population level. Exome sequences revealed functional diversity and protein-coding gene divergence. Segregating pseudogenes were comprehensively annotated, with many being population-specific and others shared among populations. Focusing on multicopy chemosensory receptor genes, the segregating pseudogenes OR7D4 (an olfactory receptor) and TAS2R42 (a bitter taste receptor) were shared among western and eastern chimpanzees. Overall, our analytical framework offers ecological insights into chimpanzees and may be applicable to other organisms.
在大型濒危动物中进行全基因组规模的进化分析一直很困难,因为获取高质量基因样本的机会有限。因此,需要新型的便于野外操作且成本效益高的基因技术。本研究对来自非洲六个地区的总共42只黑猩猩(Pan troglodytes)进行了全外显子组分析,为种群鉴别技术提供了见解。使用裂解缓冲液保存法从收集的粪便样本中无创提取野生黑猩猩的DNA。为了靶向宿主DNA的全基因组规模区域,使用最初为人类(与黑猩猩密切相关)设计的具有成本效益的诱饵进行外显子捕获测序。多变量分析有效地辨别了当地种群的差异,有助于识别样本的地理来源。全外显子组杂合度与全基因组非同义-同义替换率呈显著负相关,表明在当地种群水平上存在突变负荷。外显子序列揭示了功能多样性和蛋白质编码基因的差异。对分离的假基因进行了全面注释,其中许多是种群特异性的,其他的则在种群间共享。以多拷贝化学感应受体基因为重点,分离的假基因OR7D4(一种嗅觉受体)和TAS2R42(一种苦味受体)在西部和东部黑猩猩中共享。总体而言,我们的分析框架为黑猩猩提供了生态学见解,并且可能适用于其他生物。