AN INTERSPERSED REPEATED SEQUENCE SPECIFIC FOR HUMAN SUBTELOMERIC REGIONS

被引：92

作者：

ROUYER, F ^{[1
]}

DELACHAPELLE, A ^{[1
]}

ANDERSSON, M ^{[1
]}

WEISSENBACH, J ^{[1
]}

机构：

[1] UNIV HELSINKI,DEPT MED GENET,SF-00290 HELSINKI 29,FINLAND

来源：

EMBO JOURNAL | 1990年 / 9卷 / 02期

关键词：

Genetic recombination; human telomeres; meiotic pairing; pseudoautosomal region; repeated DNA sequences;

D O I：

10.1002/j.1460-2075.1990.tb08137.x

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A family of DNA loci (DNF28) from the pseudoautosomal region of the human sex chromosomes is characterized by a repeated element (STIR: subtelomeric interspersed repeat) which detects homologous sequences in the telomeric regions of human autosomes by in situ hybridization. Several STIR elements from both the pseudoautosomal region and terminal parts of autosomes were cloned and sequenced. A conserved 350 bp sequence and some characteristic structural differences between the autosomal and pseudoautosomal STIRs were observed. Screening of the DNA sequence databases with a consensus sequence revealed the presence of STIRs in several human loci localized in the terminal parts of different chromosomes. We mapped single copy probes flanking the cloned autosomal STIRs to the subtelomeric parts of six different chromosomes by in situ hybridization and genetic linkage analysis. The linkage data show a greatly increased recombination frequency in the subtelomeric regions of the chromosomes, especially in male meiosis. The STIR elements, specifically located in subtelomeric regions, could play a role in the peculiar recombination properties of these chromosomal regions, e.g. by promoting initiation of pairing at meiosis.

引用

页码：505 / 514

页数：10

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