人类性染色体长臂拟常染色体区域的序列组织

The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes.

作者信息

Kvaløy K, Galvagni F, Brown W R

机构信息

Department of Biochemistry, University of Oxford, UK.

出版信息

Hum Mol Genet. 1994 May;3(5):771-8. doi: 10.1093/hmg/3.5.771.

DOI:10.1093/hmg/3.5.771

PMID:8081364

Abstract

We have analysed the sequence organization of the pseudoautosomal region at the telomeres of the long arms of the human sex chromosomes and shown that it is 320 kb long. A LINE sequence is present on both the X and Y chromosomes immediately adjacent to the breakpoint in homology suggesting that the homology arose as a result of an ectopic recombination event mediated by LINE sequences originally present in non-homologous stretches of X and Y chromosomal DNA. This led to the translocation of sequences from the X chromosome telomere onto the Y chromosome and created a new pseudoautosomal region.

摘要

我们分析了人类性染色体长臂端粒处假常染色体区域的序列组织，结果表明其长度为320 kb。在X和Y染色体上，紧邻同源性断点处均存在一个长散布元件（LINE）序列，这表明同源性是由原本存在于X和Y染色体DNA非同源片段中的LINE序列介导的异位重组事件导致的。这导致了序列从X染色体端粒易位到Y染色体上，并产生了一个新的假常染色体区域。