Tandem duplication - A novel type of triplet repeat instability

被引：21

作者：

Pluciennik, A ^{[1
]}

Iyer, RR ^{[1
]}

Parniewski, P ^{[1
]}

Wells, RD ^{[1
]}

机构：

[1] Texas A&M Univ, Texas Med Ctr, Inst Biosci & Technol, Ctr Genome Res, Houston, TX 77030 USA

来源：

JOURNAL OF BIOLOGICAL CHEMISTRY | 2000年 / 275卷 / 37期

关键词：

D O I：

10.1074/jbc.M000154200

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：

Triplet repeat sequence (TRS) inserts containing (CTG.CAG)(n) (17-175 units in length) were tandemly duplicated when propagated in plasmids in Escherichia coli, The products of this novel type of TRS genetic instability are tracts of as many as 34 multiple units, which contain the entire TRS as well as 129 base pairs of nonrepetitive flanking sequence. The duplication process required the presence of two or more TRS-containing units. Close proximity (170 base pairs) of the TRS to the R6K gamma origin of replication of the pUTminiTn5Cm-derived constructs stimulated the tandem duplication process. These events are proposed to occur due to secondary structure formation, stalling of DNA synthesis, and slippage-mediated misalignment of the complementary strands relative to each other during DNA replication. This mechanism may account for the TRS-associated duplications in protein kinase and metalloprotease genes in neuroblastomas and melanomas, as well as the massive repeat expansions in type II triplet repeat neurological diseases.

引用

页码：28386 / 28397

页数：12

共 76 条

[1] ON THE FORMATION OF SPONTANEOUS DELETIONS - THE IMPORTANCE OF SHORT SEQUENCE HOMOLOGIES IN THE GENERATION OF LARGE DELETIONS [J].

ALBERTINI, AM ;

HOFER, M ;

CALOS, MP ;

MILLER, JH .

CELL, 1982, 29 (02) :319-328

[2] ISOLATION OF HUMAN SIMPLE REPEAT LOCI BY HYBRIDIZATION SELECTION [J].

ARMOUR, JAL ;

NEUMANN, R ;

GOBERT, S ;

JEFFREYS, AJ .

HUMAN MOLECULAR GENETICS, 1994, 3 (04) :599-605

[3] Flexible DNA: Genetically unstable CTG center dot CAG and CGG center dot CCG from human hereditary neuromuscular disease genes [J].

Bacolla, A ;

Gellibolian, R ;

Shimizu, M ;

Amirhaeri, S ;

Kang, S ;

Ohshima, K ;

Larson, JE ;

Harvey, SC ;

Stollar, BD ;

Wells, RD .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (27) :16783-16792

[4]

Bacolla A, 1998, GENETIC INSTABILITIES AND HEREDITARY NEUROLOGICAL DISEASES, P467

[5] TRANSCRIPTIONAL ACTIVATION OF INITIATION OF REPLICATION FROM THE ESCHERICHIA-COLI CHROMOSOMAL ORIGIN - AN RNA-DNA HYBRID NEAR ORIC [J].

BAKER, TA ;

KORNBERG, A .

CELL, 1988, 55 (01) :113-123

[6]

Bichara M, 2000, GENETICS, V154, P533

[7] LARGE-SCALE STABLE OPENING OF SUPERCOILED DNA IN RESPONSE TO TEMPERATURE AND SUPERCOILING IN (A + T)-RICH REGIONS THAT PROMOTE LOW-SALT CRUCIFORM EXTRUSION [J].

BOWATER, R ;

ABOULELA, F ;

LILLEY, DMJ .

BIOCHEMISTRY, 1991, 30 (49) :11495-11506

[8] Relationship between Escherichia coli growth and deletions of CTG center dot CAG triplet repeats in plasmids [J].

Bowater, RP ;

Rosche, WA ;

Jaworski, A ;

Sinden, RR ;

Wells, RD .

JOURNAL OF MOLECULAR BIOLOGY, 1996, 264 (01) :82-96

[9] Transcription increases the deletion frequency of long CTG center dot CAG triplet repeats from plasmids in Escherichia coli [J].

Bowater, RP ;

Jaworski, A ;

Larson, JE ;

Parniewski, P ;

Wells, RD .

NUCLEIC ACIDS RESEARCH, 1997, 25 (14) :2861-2868

[10]

BURD JF, 1975, J BIOL CHEM, V250, P6002

← 1 2 3 4 5 6 7 8 →