HUMAN GENES CONTAINING POLYMORPHIC TRINUCLEOTIDE REPEATS

被引：170

作者：

RIGGINS, GJ

LOKEY, LK

CHASTAIN, JL

LEINER, HA

SHERMAN, SL

WILKINSON, KD

WARREN, ST

机构：

[1] EMORY UNIV,SCH MED,DEPT BIOCHEM,ATLANTA,GA 30322

[2] EMORY UNIV,SCH MED,DEPT PEDIAT,DIV MED GENET,ATLANTA,GA 30322

[3] EMORY UNIV,SCH MED,HOWARD HUGHES MED INST,ATLANTA,GA 30322

来源：

NATURE GENETICS | 1992年 / 2卷 / 03期

关键词：

D O I：

10.1038/ng1192-186

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Expansions of trinucleotide repeats within gene transcripts are responsible for fragile X syndrome, myotonic dystrophy and spinal and bulbar muscular atrophy. To identify other human genes with similar features as candidates for triplet repeat expansion mutations, we screened human cDNA libraries with repeat probes and searched databases for transcribed genes with repeats. From both strategies, 40 genes were identified and 14 characterized. Five were found to contain repeats which are highly polymorphic including the N-cadherin, BCR, glutathione-S-transferase and Na+/K+ ATPase (beta-subunit) genes. These data demonstrate the occurrence of other human loci which may undergo this novel mechanism of mutagenesis giving rise to genetic disease.

引用

页码：186 / 191

页数：6

共 49 条

[41]

SUTCLIFFE JS, IN PRESS HUM MOL GEN

[42] REPORT OF THE COMMITTEE ON CYTOGENETIC MARKERS [J].

SUTHERLAND, GR ;

LEDBETTER, DH .

CYTOGENETICS AND CELL GENETICS, 1989, 51 (1-4) :452-458

[43] IDENTIFICATION OF A GENE (FMR-1) CONTAINING A CGG REPEAT COINCIDENT WITH A BREAKPOINT CLUSTER REGION EXHIBITING LENGTH VARIATION IN FRAGILE-X SYNDROME [J].

VERKERK, AJMH ;

PIERETTI, M ;

SUTCLIFFE, JS ;

FU, YH ;

KUHL, DPA ;

PIZZUTI, A ;

REINER, O ;

RICHARDS, S ;

VICTORIA, MF ;

ZHANG, FP ;

EUSSEN, BE ;

VANOMMEN, GJB ;

BLONDEN, LAJ ;

RIGGINS, GJ ;

CHASTAIN, JL ;

KUNST, CB ;

GALJAARD, H ;

CASKEY, CT ;

NELSON, DL ;

OOSTRA, BA ;

WARREN, ST .

CELL, 1991, 65 (05) :905-914

[44] ABNORMAL PATTERN DETECTED IN FRAGILE-X PATIENTS BY PULSED-FIELD GEL-ELECTROPHORESIS [J].

VINCENT, A ;

HEITZ, D ;

PETIT, C ;

KRETZ, C ;

OBERLE, I ;

MANDEL, JL .

NATURE, 1991, 349 (6310) :624-626

[45] N-CADHERIN GENE MAPS TO HUMAN CHROMOSOME-18 AND IS NOT LINKED TO THE E-CADHERIN GENE [J].

WALSH, FS ;

BARTON, CH ;

PUTT, W ;

MOORE, SE ;

KELSELL, D ;

SPURR, N ;

GOODFELLOW, PN .

JOURNAL OF NEUROCHEMISTRY, 1990, 55 (03) :805-812

[46] THE GENE ENCODING HUMAN PROTECTIVE PROTEIN (PPGB) IS ON CHROMOSOME-20 [J].

WIEGANT, J ;

GALJART, NJ ;

RAAP, AK ;

DAZZO, A .

GENOMICS, 1991, 10 (02) :345-349

[47] FRAGILE-X GENOTYPE CHARACTERIZED BY AN UNSTABLE REGION OF DNA [J].

YU, S ;

PRITCHARD, M ;

KREMER, E ;

LYNCH, M ;

NANCARROW, J ;

BAKER, E ;

HOLMAN, K ;

MULLEY, JC ;

WARREN, ST ;

SCHLESSINGER, D ;

SUTHERLAND, GR ;

RICHARDS, RI .

SCIENCE, 1991, 252 (5009) :1179-1181

[48] A MUTATION IN A MILD FORM OF GALACTOSIALIDOSIS IMPAIRS DIMERIZATION OF THE PROTECTIVE PROTEIN AND RENDERS IT UNSTABLE [J].

ZHOU, XY ;

GALJART, NJ ;

WILLEMSEN, R ;

GILLEMANS, N ;

GALJAARD, H ;

DAZZO, A .

EMBO JOURNAL, 1991, 10 (13) :4041-4048

[49] UNIQUE ORGANIZATION OF THE HUMAN BCR GENE PROMOTER [J].

ZHU, QS ;

HEISTERKAMP, N ;

GROFFEN, J .

NUCLEIC ACIDS RESEARCH, 1990, 18 (23) :7119-7125

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