通过对重排Y染色体的分析确定人类着丝粒功能所需的DNA序列定位

Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes.

作者信息

Tyler-Smith C, Oakey R J, Larin Z, Fisher R B, Crocker M, Affara N A, Ferguson-Smith M A, Muenke M, Zuffardi O, Jobling M A

机构信息

Department of Biochemistry, University of Oxford, UK.

出版信息

Nat Genet. 1993 Dec;5(4):368-75. doi: 10.1038/ng1293-368.

DOI:10.1038/ng1293-368

PMID:8298645

Abstract

We have localized the DNA sequences required for mitotic centromere function on the human Y chromosome. Analysis of 33 rearranged Y chromosomes allowed the centromere to be placed in interval 8 of a 24-interval deletion map. Although this interval is polymorphic in size, it can be as small as approximately 500kb. It contains alphoid satellite DNA and approximately 300kb of adjacent Yp sequences. Chromosomes with rearrangements in this region were analysed in detail. Two translocation chromosomes and one monocentric isochromosome had breakpoints within the alphoid array. Of 12 suppressed Y centromeres on translocation chromosomes and dicentric isochromosomes that were also analysed two showed deletions one of which only removed alphoid DNA. These results indicate that alphoid DNA is a functional part of the Y chromosome centromere.

摘要

我们已经将有丝分裂着丝粒功能所需的DNA序列定位到了人类Y染色体上。对33条重排的Y染色体进行分析后，可将着丝粒定位在一个有24个区间的缺失图谱的区间8内。尽管该区间大小具有多态性，但最小可能约为500kb。它包含α卫星DNA和约300kb的相邻Yp序列。对该区域发生重排的染色体进行了详细分析。两条易位染色体和一条单着丝粒等臂染色体在α卫星阵列内有断点。在同样被分析的12条易位染色体和双着丝粒等臂染色体上的抑制型Y着丝粒中，有两条显示出缺失，其中一条仅去除了α卫星DNA。这些结果表明，α卫星DNA是Y染色体着丝粒的一个功能部分。