MUTATIONS OF GTBP IN GENETICALLY UNSTABLE CELLS

被引：473

作者：

PAPADOPOULOS, N

NICOLAIDES, NC

LIU, B

PARSONS, R

LENGAUER, C

PALOMBO, F

DARRIGO, A

MARKOWITZ, S

WILLSON, JKV

KINZLER, KW

JIRICNY, J

VOGELSTEIN, B

机构：

[1] HOWARD HUGHES MED INST, BALTIMORE, MD 21231 USA

[2] JOHNS HOPKINS ONCOL CTR, BALTIMORE, MD 21231 USA

[3] IST RIC BIOL MOLEC P ANGELETTI, I-00040 POMEZIA, ITALY

[4] UNIV HOSP CLEVELAND, IRELAND CANC CTR, DEPT MED, CLEVELAND, OH USA

[5] CASE WESTERN RESERVE UNIV, CLEVELAND, OH 44106 USA

来源：

SCIENCE | 1995年 / 268卷 / 5219期

关键词：

D O I：

10.1126/science.7604266

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The molecular defects responsible for tumor cell hypermutability in humans have not yet been fully identified. Here the gene encoding a G/T mismatch-binding protein (GTBP) was localized to within 1 megabase of the related hMSH2 gene on chromosome 2 and was found to be inactivated in three hypermutable cell lines. Unlike cells defective in other mismatch repair genes, which display widespread alterations in mononucleotide, dinucleotide, and other simple repeated sequences, the GTBP-deficient cells showed alterations primarily in mononucleotide tracts. These results suggest that GTBP is important for maintaining the integrity of the human genome and document molecular defects accounting for variation in mutator phenotype.

引用

页码：1915 / 1917

页数：3

共 27 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] MUTATOR PHENOTYPES IN HUMAN COLORECTAL-CARCINOMA CELL-LINES [J].

BHATTACHARYYA, NP ;

SKANDALIS, A ;

GANESH, A ;

GRODEN, J ;

MEUTH, M .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (14) :6319-6323

[3] CA REPEAT POLYMORPHISM AT THE D5S82 LOCUS, PROXIMAL TO ADENOMATOUS POLYPOSIS-COLI (APC) [J].

BREUKEL, C ;

TOPS, C ;

VANLEEUWEN, C ;

VANDERKLIFT, H ;

NAKAMURA, Y ;

FODDE, R ;

KHAN, PM .

NUCLEIC ACIDS RESEARCH, 1991, 19 (20) :5804-5804

[4] POLYMERASE-DELTA VARIANTS IN RER COLORECTAL TUMORS [J].

DACOSTA, LT ;

LIU, B ;

ELDEIRY, WS ;

HAMILTON, SR ;

KINZLER, KW ;

VOGELSTEIN, B ;

MARKOWITZ, S ;

WILLSON, JKV ;

DELACHAPELLE, A ;

DOWNEY, KM ;

SO, AG .

NATURE GENETICS, 1995, 9 (01) :10-11

[5] ISOLATION OF AN HMSH2-P160 HETERODIMER THAT RESTORES DNA MISMATCH REPAIR TO TUMOR-CELLS [J].

DRUMMOND, JT ;

LI, GM ;

LONGLEY, MJ ;

MODRICH, P .

SCIENCE, 1995, 268 (5219) :1909-1912

[6]

GOLDMACHER VS, 1986, J BIOL CHEM, V261, P2462

[7] THE 1993-94 GENETHON HUMAN GENETIC-LINKAGE MAP [J].

GYAPAY, G ;

MORISSETTE, J ;

VIGNAL, A ;

DIB, C ;

FIZAMES, C ;

MILLASSEAU, P ;

MARC, S ;

BERNARDI, G ;

LATHROP, M ;

WEISSENBACH, J .

NATURE GENETICS, 1994, 7 (02) :246-339

[8] UBIQUITOUS SOMATIC MUTATIONS IN SIMPLE REPEATED SEQUENCES REVEAL A NEW MECHANISM FOR COLONIC CARCINOGENESIS [J].

IONOV, Y ;

PEINADO, MA ;

MALKHOSYAN, S ;

SHIBATA, D ;

PERUCHO, M .

NATURE, 1993, 363 (6429) :558-561

[9] AN ALKYLATION-TOLERANT, MUTATOR HUMAN CELL-LINE IS DEFICIENT IN STRAND-SPECIFIC MISMATCH REPAIR [J].

KAT, A ;

THILLY, WG ;

FANG, WH ;

LONGLEY, MJ ;

LI, GM ;

MODRICH, P .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (14) :6424-6428

[10] STRUCTURE OF THE HUMAN MSH2 LOCUS AND ANALYSIS OF 2 MUIR-TORRE KINDREDS FOR MSH2 MUTATIONS [J].

KOLODNER, RD ;

HALL, NR ;

LIPFORD, J ;

KANE, MF ;

RAO, MRS ;

MORRISON, P ;

WIRTH, L ;

FINAN, PJ ;

BURN, J ;

CHAPMAN, P ;

EARABINO, C ;

MERCHANT, E ;

BISHOP, DT .

GENOMICS, 1994, 24 (03) :516-526

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