通过长读测序研究人类着丝粒的时机已经成熟。

IF 3.9 2区生物学 Q1 GENETICS & HEREDITY

DNA Research Pub Date : 2021-10-11 DOI:10.1093/dnares/dsab021

Yuta Suzuki, Shinichi Morishita

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引用次数: 3

摘要

人类着丝粒充满了高度重复的元素，对其进行完整测序一直是一项挑战。在人类着丝粒中，长度约为171 bp的α-卫星单体是基本的重复单元，而α-卫星单体则构成了高阶重复单元(high -order repeat, HOR)，数千个高度同源的高阶重复单元组成了大阵列，阻碍了人类着丝粒的序列组装。由于大多数HOR单元的发生都被大约10 kb的长读取所覆盖，因此，最近出现的更长的读取有望从单核苷酸或结构变体的角度观察单个HOR的发生。现在是研究人类着丝粒完整序列的时候了。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

The time is ripe to investigate human centromeres by long-read sequencing†.

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The time is ripe to investigate human centromeres by long-read sequencing†.

The complete sequencing of human centromeres, which are filled with highly repetitive elements, has long been challenging. In human centromeres, α-satellite monomers of about 171 bp in length are the basic repeating units, but α-satellite monomers constitute the higher-order repeat (HOR) units, and thousands of copies of highly homologous HOR units form large arrays, which have hampered sequence assembly of human centromeres. Because most HOR unit occurrences are covered by long reads of about 10 kb, the recent availability of much longer reads is expected to enable observation of individual HOR occurrences in terms of their single-nucleotide or structural variants. The time has come to examine the complete sequence of human centromeres.

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来源期刊

DNA Research 生物-遗传学

CiteScore

6.00

自引率

4.90%

发文量

审稿时长

4.5 months

期刊介绍： DNA Research is an internationally peer-reviewed journal which aims at publishing papers of highest quality in broad aspects of DNA and genome-related research. Emphasis will be made on the following subjects: 1) Sequencing and characterization of genomes/important genomic regions, 2) Comprehensive analysis of the functions of genes, gene families and genomes, 3) Techniques and equipments useful for structural and functional analysis of genes, gene families and genomes, 4) Computer algorithms and/or their applications relevant to structural and functional analysis of genes and genomes. The journal also welcomes novel findings in other scientific disciplines related to genomes.