Structural features of trinucleotide repeats associated with DNA expansion

被引:38
作者
Kovtun, IV
Goellner, G
McMurray, CT
机构
[1] Mayo Clin & Mayo Fdn, Dept Mol Pharmacol & Expt Therapeut, Rochester, MN 55905 USA
[2] Mayo Clin & Mayo Fdn, Mol Neurosci Program, Rochester, MN 55905 USA
关键词
expansion; hairpin; trinucleotide repeat; polymerase slippage; recombination; repair;
D O I
10.1139/bcb-79-3-325
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
The mechanism of DNA expansion is not well understood. Recent evidence from genetic, in vivo, and in vitro studies has suggested a link between the formation of alternative DNA secondary structures by trinucleotide repeat tracts and their propensity to undergo expansion. This review will focus on structural features and the mechanism of expansion relevant to human disease.
引用
收藏
页码:325 / 336
页数:12
相关论文
共 107 条
[1]   CLUES TO THE PATHOGENESIS OF FAMILIAL COLORECTAL-CANCER [J].
AALTONEN, LA ;
PELTOMAKI, P ;
LEACH, FS ;
SISTONEN, P ;
PYLKKANEN, L ;
MECKLIN, JP ;
JARVINEN, H ;
POWELL, SM ;
JEN, J ;
HAMILTON, SR ;
PETERSEN, GM ;
KINZLER, KW ;
VOGELSTEIN, B ;
DELACHAPELLE, A .
SCIENCE, 1993, 260 (5109) :812-816
[2]   CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae [J].
Balakumaran, BS ;
Freudenreich, CH ;
Zakian, VA .
HUMAN MOLECULAR GENETICS, 2000, 9 (01) :93-100
[3]   Enzymes and reactions at the eukaryotic DNA replication fork [J].
Bambara, RA ;
Murante, RS ;
Henricksen, LA .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (08) :4647-4650
[4]   WHEN REPLICATION FORKS STOP [J].
BIERNE, H ;
MICHEL, B .
MOLECULAR MICROBIOLOGY, 1994, 13 (01) :17-23
[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 [J].
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 .
CELL, 1992, 68 (04) :799-808
[6]   Insertion of expanded CAG trinucleotide repeat motifs into a yeast artificial chromosome containing the human Machado-Joseph disease gene [J].
Cemal, CK ;
Huxley, C ;
Chamberlain, S .
GENE, 1999, 236 (01) :53-61
[7]   HAIRPINS ARE FORMED BY THE SINGLE DNA STRANDS OF THE FRAGILE-X TRIPLET REPEATS - STRUCTURE AND BIOLOGICAL IMPLICATIONS [J].
CHEN, XA ;
MARIAPPAN, SVS ;
CATASTI, P ;
RATLIFF, R ;
MOYZIS, RK ;
LAAYOUN, A ;
SMITH, SS ;
BRADBURY, EM ;
GUPTA, G .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (11) :5199-5203
[8]   Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses [J].
Chong, SS ;
Almqvist, E ;
Telenius, H ;
LaTray, L ;
Nichol, K ;
BourdelatParks, B ;
Goldberg, YP ;
Haddad, BR ;
Richards, F ;
Sillence, D ;
Greenberg, CR ;
Ives, E ;
VandenEngh, G ;
Hughes, MR ;
Hayden, MR .
HUMAN MOLECULAR GENETICS, 1997, 6 (02) :301-309
[9]   EVIDENCE FOR A MECHANISM PREDISPOSING TO INTERGENERATIONAL CAG REPEAT INSTABILITY IN SPINOCEREBELLAR ATAXIA TYPE-I [J].
CHUNG, MY ;
RANUM, LPW ;
DUVICK, LA ;
SERVADIO, A ;
ZOGHBI, HY ;
ORR, HT .
NATURE GENETICS, 1993, 5 (03) :254-258
[10]   The sbcC and sbcD genes of Escherichia coli encode a nuclease involved in palindrome inviability and genetic recombination [J].
Connelly, JC ;
Leach, DRF .
GENES TO CELLS, 1996, 1 (03) :285-291