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人类13号、14号和21号染色体着丝粒区域的长期分析:鉴定出一个包含两个关键着丝粒DNA元件的狭窄区域。

Long-range analyses of the centromeric regions of human chromosomes 13, 14 and 21: identification of a narrow domain containing two key centromeric DNA elements.

作者信息

Trowell H E, Nagy A, Vissel B, Choo K H

机构信息

Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Victoria, Australia.

出版信息

Hum Mol Genet. 1993 Oct;2(10):1639-49. doi: 10.1093/hmg/2.10.1639.

Abstract

Alpha-satellite, satellite 3 and satellite 1 DNA have been proposed as candidate components of a functional human centromere. Multiple subfamilies of these three DNA have recently been identified at the pericentric regions of the human acrocentric chromosomes. Using pulsed field gel electrophoresis, we have constructed long-range maps of the various centromeric markers for chromosomes 13, 14 and 21. These maps cover approximately 2.3 megabases of sequence for each chromosome, and the results demonstrate that within this centromeric region, chromosomes 13 and 21 have a similar organization that is partially shared by chromosome 14. A discrete satellite 3 domain was identified on each chromosome within the boundaries of the alpha-satellite DNA. No satellite 1 was detected within the defined centromeric regions suggesting that satellite 1 is not essential for centromere function.

摘要

α卫星DNA、卫星3 DNA和卫星1 DNA已被提议作为功能性人类着丝粒的候选组成部分。最近在人类近端着丝粒染色体的着丝粒周围区域鉴定出了这三种DNA的多个亚家族。我们使用脉冲场凝胶电泳构建了13号、14号和21号染色体各种着丝粒标记的长程图谱。这些图谱覆盖了每条染色体约230万个碱基对的序列,结果表明,在这个着丝粒区域内,13号和21号染色体具有相似的组织结构,14号染色体部分共享这种结构。在α卫星DNA边界内的每条染色体上都鉴定出了一个离散的卫星3结构域。在定义的着丝粒区域内未检测到卫星1,这表明卫星1对着丝粒功能不是必需的。

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