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
  • [1] PHYSICAL MAPPING ACROSS THE FRAGILE-X - HYPERMETHYLATION AND CLINICAL EXPRESSION OF THE FRAGILE-X SYNDROME
    BELL, MV
    HIRST, MC
    NAKAHORI, Y
    MACKINNON, RN
    ROCHE, A
    FLINT, TJ
    JACOBS, PA
    TOMMERUP, N
    TRANEBJAERG, L
    FROSTERISKENIUS, U
    KERR, B
    TURNER, G
    LINDENBAUM, RH
    WINTER, R
    PEMBREY, M
    THIBODEAU, S
    DAVIES, KE
    [J]. CELL, 1991, 64 (04) : 861 - 866
  • [2] SODIUM-POTASSIUM-ATPASE ACTIVITY IS INFLUENCED BY ETHNIC-ORIGIN AND NOT BY OBESITY
    BEUTLER, E
    KUHL, W
    SACKS, P
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1983, 309 (13) : 756 - 760
  • [3] Biancalana V., 1992, Human Molecular Genetics, V1, P255, DOI 10.1093/hmg/1.4.255
  • [4] BOTSTEIN D, 1980, AM J HUM GENET, V32, P314
  • [5] MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER
    BROOK, JD
    MCCURRACH, ME
    HARLEY, HG
    BUCKLER, AJ
    CHURCH, D
    ABURATANI, H
    HUNTER, K
    STANTON, VP
    THIRION, JP
    HUDSON, T
    SOHN, R
    ZEMELMAN, B
    SNELL, RG
    RUNDLE, SA
    CROW, S
    DAVIES, J
    SHELBOURNE, P
    BUXTON, J
    JONES, C
    JUVONEN, V
    JOHNSON, K
    HARPER, PS
    SHAW, DJ
    HOUSMAN, DE
    [J]. CELL, 1992, 68 (04) : 799 - 808
  • [6] FENG TLY, 1988, GENOMICS, V2, P128
  • [7] AN UNSTABLE TRIPLET REPEAT IN A GENE RELATED TO MYOTONIC MUSCULAR-DYSTROPHY
    FU, YH
    PIZZUTI, A
    FENWICK, RG
    KING, J
    RAJNARAYAN, S
    DUNNE, PW
    DUBEL, J
    NASSER, GA
    ASHIZAWA, T
    DEJONG, P
    WIERINGA, B
    KORNELUK, R
    PERRYMAN, MB
    EPSTEIN, HF
    CASKEY, CT
    [J]. SCIENCE, 1992, 255 (5049) : 1256 - 1258
  • [8] VARIATION OF THE CGG REPEAT AT THE FRAGILE-X SITE RESULTS IN GENETIC INSTABILITY - RESOLUTION OF THE SHERMAN PARADOX
    FU, YH
    KUHL, DPA
    PIZZUTI, A
    PIERETTI, M
    SUTCLIFFE, JS
    RICHARDS, S
    VERKERK, AJMH
    HOLDEN, JJA
    FENWICK, RG
    WARREN, ST
    OOSTRA, BA
    NELSON, DL
    CASKEY, CT
    [J]. CELL, 1991, 67 (06) : 1047 - 1058
  • [9] EXPRESSION OF CDNA-ENCODING THE HUMAN PROTECTIVE PROTEIN ASSOCIATED WITH LYSOSOMAL BETA-GALACTOSIDASE AND NEURAMINIDASE - HOMOLOGY TO YEAST PROTEASES
    GALJART, NJ
    GILLEMANS, N
    HARRIS, A
    VANDERHORST, GTJ
    VERHEIJEN, FW
    GALJAARD, H
    DAZZO, A
    [J]. CELL, 1988, 54 (06) : 755 - 764
  • [10] VARIATION AMONG HUMAN 28S RIBOSOMAL-RNA GENES
    GONZALEZ, IL
    GORSKI, JL
    CAMPEN, TJ
    DORNEY, DJ
    ERICKSON, JM
    SYLVESTER, JE
    SCHMICKEL, RD
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (22) : 7666 - 7670
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