Human centromere genomics: now it's personal
Human centromere genomics: now it's personal
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DOI：
10.1007/s10577-012-9295-y
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发表时间：
2012-07-01
影响因子：
2.6
通讯作者：
Hayden, Karen E.
中科院分区：
文献类型：
--
作者：
Hayden, Karen E.
人类基因组学的进步加速了对进化、疾病和细胞调控的研究。然而，着丝粒序列，定义与纺锤体微管染色体接口，仍然在很大程度上缺席正在进行的基因组研究和断开功能，全基因组分析。这种差异是由于预测几乎完全由几乎相同的卫星DNA组成的多兆大小区域的线性顺序的挑战。认识到这些挑战，人类着丝粒基因组学领域具有快速发展的潜力，因为个体或个性化的基因组计划与长读序测序技术的前景相匹配。在这里，我回顾了目前的人类着丝粒的基因组模型，考虑到这些研究涉及功能数据集，研究序列在着丝粒身份的作用。
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.