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Integrated analysis of the complete sequence of a macaque genome
Zhang, SL; Xu, N; Fu, LT; Yang, XY; Ma, KY; Li, YM; Yang, ZK; Li, ZT; Feng, Y; Jiang, XR; Han, JM; Hu, RX; Zhang, L; Lian, D; de Gennaro, L; Paparella, A; Ryabov, F; Meng, D; He, YX; Wu, DY; Yang, CT; Mao, YX; Bian, XY; Lu, Y; Antonacci, F; Ventura, M; Shepelev, VA; Miga, KH; Alexandrov, IA; Logsdon, GA; Phillippy, AM; Su, B; Zhang, GJ; Eichler, EE; Lu, Q; Shi, YY; Sun, Q; Mao, YF
2025
发表期刊NATURE
ISSN0028-0836
摘要The crab-eating macaques (Macaca fascicularis) and rhesus macaques (Macacamulatta) are pivotal in biomedical and evolutionary research1, 2-3. However, their genomic complexity and interspecies genetic differences remain unclear4. Here, we present a complete genome assembly of a crab-eating macaque, revealing 46% fewer segmental duplications and 3.83 times longer centromeres than those of humans5,6. We also characterize 93 large-scale genomic differences between macaques and humans at a single-base-pair resolution, highlighting their impact on gene regulation in primate evolution. Using ten long-read macaque genomes, hundreds of short-read macaque genomes and full-length transcriptome data, we identified roughly 2 Mbp of fixed-genetic variants, roughly 240 Mbp of complex loci, 16.76 Mbp genetic differentiation regions and 110 alternative splice events, potentially associated with various phenotypic differences between the two macaque species. In summary, the integrated genetic analysis enhances understanding of lineage-specific phenotypes, adaptation and primate evolution, thereby improving their biomedical applications in human disease research.
收录类别SCI
语种英语
文献类型期刊论文
条目标识符http://ir.kiz.ac.cn/handle/152453/14558
专题科研部门_比较基因组学(宿兵)
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GB/T 7714
Zhang, SL,Xu, N,Fu, LT,et al. Integrated analysis of the complete sequence of a macaque genome[J]. NATURE,2025.
APA Zhang, SL.,Xu, N.,Fu, LT.,Yang, XY.,Ma, KY.,...&Mao, YF.(2025).Integrated analysis of the complete sequence of a macaque genome.NATURE.
MLA Zhang, SL,et al."Integrated analysis of the complete sequence of a macaque genome".NATURE (2025).
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