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人类着丝粒基因组学:现在是个人的了。

Human centromere genomics: now it's personal.

机构信息

Center for Biomolecular Science and Engineering, University of California, Santa Cruz, CA 95064, USA.

出版信息

Chromosome Res. 2012 Jul;20(5):621-33. doi: 10.1007/s10577-012-9295-y.

Abstract

Advances in human genomics have accelerated studies in evolution, disease, and cellular regulation. However, centromere sequences, defining the chromosomal interface with spindle microtubules, remain largely absent from ongoing genomic studies and disconnected from functional, genome-wide analyses. This disparity results from the challenge of predicting the linear order of multi-megabase-sized regions that are composed almost entirely of near-identical satellite DNA. Acknowledging these challenges, the field of human centromere genomics possesses the potential to rapidly advance given the availability of individual, or personalized, genome projects matched with the promise of long-read sequencing technologies. Here I review the current genomic model of human centromeres in consideration of those studies involving functional datasets that examine the role of sequence in centromere identity.

摘要

人类基因组学的进展加速了进化、疾病和细胞调节的研究。然而,着丝粒序列定义了与纺锤体微管的染色体界面,在正在进行的基因组研究中仍然大部分缺失,并且与功能的、全基因组的分析相分离。这种差异是由于预测由几乎完全由近同源卫星 DNA 组成的数百万碱基大小的区域线性顺序的挑战所致。鉴于可获得与长读测序技术的承诺相匹配的个体或个性化基因组项目,人类着丝粒基因组学领域认识到这些挑战,具有快速发展的潜力。在这里,我考虑了那些涉及功能数据集的研究,审查了人类着丝粒的当前基因组模型,这些研究检查了序列在着丝粒身份中的作用。

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