Identification and chromosomal localization of human genes containing CAG/CTG repeats expressed in testis and brain

被引：14

作者：

Bulle, F ^{[1
]}

Chiannilkulchai, N ^{[1
]}

Pawlak, A ^{[1
]}

Weissenbach, J ^{[1
]}

Gyapay, G ^{[1
]}

Guellaen, G ^{[1
]}

机构：

[1] GENETHON, CNRS, URA 1922, F-91002 EVRY, FRANCE

来源：

GENOME RESEARCH | 1997年 / 7卷 / 07期

关键词：

D O I：

10.1101/gr.7.7.705

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：

Human genes containing triplet repeats have been demonstrated to be involved in several neurodegenerative diseases by expansion of the repeat in succeeding generations. To identify novel genes involved in such pathologies, we have isolated transcripts containing (CAG/CTG)(n) repeats using two approaches. First, we screened 4 x 10(6) clones representing 10 copies of a human testis cDNA library using a (CAG)(14) oligonucleotide probe. Among the 910 clones identified, the 243 clones with the strongest hybridization signal were sequenced partially from 3' or 5' ends. This provided us with 251 partial sequences that grouped into clusters corresponding to 39 genes, of which 19 represent unknown species. Second, we selected 203 additional ESTs containing (CAG/CTG)(n) repeats representing 121 clusters from the IMAGE consortium infant brain cDNA library. From these two series of sequences, we have localized 95 genes on human chromosomes using a panel of whole genome radiation hybrid (Genebridge 4). These genes are located on all of the chromosomes except for chromosome X, the highest density being observed on chromosome 19.

引用

页码：705 / 715

页数：11

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