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
收藏
页码：186 / 191
页数：6
相关论文
共 49 条
[31]   ABSENCE OF EXPRESSION OF THE FMR-1 GENE IN FRAGILE-X SYNDROME [J].
PIERETTI, M ;
ZHANG, FP ;
FU, YH ;
WARREN, ST ;
OOSTRA, BA ;
CASKEY, CT ;
NELSON, DL .
CELL, 1991, 66 (04) :817-822
[32]   TRINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN TRANSCRIPTION FACTOR-IID GENE [J].
POLYMEROPOULOS, MH ;
RATH, DS ;
XIAO, H ;
MERRIL, CR .
NUCLEIC ACIDS RESEARCH, 1991, 19 (15) :4307-4307
[33]   HUMAN N-CADHERIN - NUCLEOTIDE AND DEDUCED AMINO-ACID-SEQUENCE [J].
REID, RA ;
HEMPERLY, JJ .
NUCLEIC ACIDS RESEARCH, 1990, 18 (19) :5896-5896
[34]   EVIDENCE OF FOUNDER CHROMOSOMES IN FRAGILE-X SYNDROME [J].
RICHARDS, RI ;
HOLMAN, K ;
FRIEND, K ;
KREMER, E ;
HILLEN, D ;
STAPLES, A ;
BROWN, WT ;
GOONEWARDENA, P ;
TARLETON, J ;
SCHWARTZ, C ;
SUTHERLAND, GR .
NATURE GENETICS, 1992, 1 (04) :257-260
[35]  
Sambrook J., 1989, MOL CLONING LAB MANU
[36]   CHARACTERIZATION OF THE BCR PROMOTER IN PHILADELPHIA CHROMOSOME-POSITIVE AND CHROMOSOME-NEGATIVE CELL-LINES [J].
SHAH, NP ;
WITTE, ON ;
DENNY, CT .
MOLECULAR AND CELLULAR BIOLOGY, 1991, 11 (04) :1854-1860
[37]   FURTHER SEGREGATION ANALYSIS OF THE FRAGILE-X SYNDROME WITH SPECIAL REFERENCE TO TRANSMITTING MALES [J].
SHERMAN, SL ;
JACOBS, PA ;
MORTON, NE ;
FROSTERISKENIUS, U ;
HOWARDPEEBLES, PN ;
NIELSEN, KB ;
PARTINGTON, MW ;
SUTHERLAND, GR ;
TURNER, G ;
WATSON, M .
HUMAN GENETICS, 1985, 69 (04) :289-299
[38]   THE MARKER (X) SYNDROME - A CYTOGENETIC AND GENETIC-ANALYSIS [J].
SHERMAN, SL ;
MORTON, NE ;
JACOBS, PA ;
TURNER, G .
ANNALS OF HUMAN GENETICS, 1984, 48 (JAN) :21-37
[39]   THE HUMAN GLUTATHIONE S-TRANSFERASES - A CASE-CONTROL STUDY OF THE INCIDENCE OF THE GST1-0 PHENOTYPE IN PATIENTS WITH ADENOCARCINOMA [J].
STRANGE, RC ;
MATHAROO, B ;
FAULDER, GC ;
JONES, P ;
COTTON, W ;
ELDER, JB ;
DEAKIN, M .
CARCINOGENESIS, 1991, 12 (01) :25-28
[40]   THE PRESENCE OF A REDUCED AMOUNT OF 32-KD PROTECTIVE PROTEIN IS A DISTINCT BIOCHEMICAL FINDING IN LATE INFANTILE GALACTOSIALIDOSIS [J].
STRISCIUGLIO, P ;
PARENTI, G ;
GIUDICE, C ;
LIJOI, S ;
HOOGEVEEN, AT ;
DAZZO, A .
HUMAN GENETICS, 1988, 80 (03) :304-306
12345