DNA helicases in inherited human disorders

被引：114
作者：
Ellis, NA
机构：
[1] Laboratory of Human Genetics, New York Blood Center, New York, NY 10021
来源：
CURRENT OPINION IN GENETICS & DEVELOPMENT | 1997年 / 7卷 / 03期
关键词：
D O I：
10.1016/S0959-437X(97)80149-9
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, Werner's syndrome, and alpha-thalassemia mental retardation on the X chromosome. The clinical abnormalities in these syndromes cover a broad spectrum, pointing to different cellular processes of DNA manipulation that are defective in these syndromes.
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页码：354 / 363
页数：10
相关论文
共 79 条
[1]   Role for N-CoR and histone deacetylase in Sin3-mediated transcriptional repression [J].
Alland, L ;
Muhle, R ;
Hou, H ;
Potes, J ;
Chin, L ;
SchreiberAgus, N ;
DePinho, RA .
NATURE, 1997, 387 (6628) :49-55
[2]   MUTATIONS IN THE XERODERMA-PIGMENTOSUM GROUP-D DNA REPAIR/TRANSCRIPTION GENE IN PATIENTS WITH TRICHOTHIODYSTROPHY [J].
BROUGHTON, BC ;
STEINGRIMSDOTTIR, H ;
WEBER, CA ;
LEHMANN, AR .
NATURE GENETICS, 1994, 7 (02) :189-194
[3]   THE SNF/SWI FAMILY OF GLOBAL TRANSCRIPTIONAL ACTIVATORS [J].
CARLSON, M ;
LAURENT, BC .
CURRENT OPINION IN CELL BIOLOGY, 1994, 6 (03) :396-402
[4]   RETRACTED: Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G (Retracted Article. See vol 308, pg 1740, 2005) [J].
Cooper, PK ;
Nouspikel, T ;
Clarkson, SG ;
Leadon, SA .
SCIENCE, 1997, 275 (5302) :990-993
[5]   STIMULATION OF GAL4 DERIVATIVE BINDING TO NUCLEOSOMAL DNA BY THE YEAST SWI/SNF COMPLEX [J].
COTE, J ;
QUINN, J ;
WORKMAN, JL ;
PETERSON, CL .
SCIENCE, 1994, 265 (5168) :53-60
[6]   EVOLUTION OF THE SNF2 FAMILY OF PROTEINS - SUBFAMILIES WITH DISTINCT SEQUENCES AND FUNCTIONS [J].
EISEN, JA ;
SWEDER, KS ;
HANAWALT, PC .
NUCLEIC ACIDS RESEARCH, 1995, 23 (14) :2715-2723
[7]  
ELLIS NA, 1994, AM J HUM GENET, V55, P453
[8]  
ELLIS NA, 1995, AM J HUM GENET, V57, P1019
[9]   THE BLOOMS-SYNDROME GENE-PRODUCT IS HOMOLOGOUS TO RECQ HELICASES [J].
ELLIS, NA ;
GRODEN, J ;
YE, TZ ;
STRAUGHEN, J ;
LENNON, DJ ;
CIOCCI, S ;
PROYTCHEVA, M ;
GERMAN, J .
CELL, 1995, 83 (04) :655-666
[10]   WERNERS SYNDROME - A REVIEW OF ITS SYMPTOMATOLOGY NATURAL HISTORY PATHOLOGIC FEATURES GENETICS AND RELATIONSHIP TO NATURAL AGING PROCESS [J].
EPSTEIN, CJ ;
MARTIN, GM ;
SCHULTZ, AL ;
MOTULSKY, AG .
MEDICINE, 1966, 45 (03) :177-+
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