MUTATION OF A MUTL HOMOLOG IN HEREDITARY COLON-CANCER

被引：1719

作者：

PAPADOPOULOS, N

NICOLAIDES, NC

WEI, YF

RUBEN, SM

CARTER, KC

ROSEN, CA

HASELTINE, WA

FLEISCHMANN, RD

FRASER, CM

ADAMS, MD

VENTER, JC

HAMILTON, SR

PETERSEN, GM

WATSON, P

LYNCH, HT

PELTOMAKI, P

MECKLIN, JP

DELACHAPELLE, A

KINZLER, KW

VOGELSTEIN, B

机构：

[1] JOHNS HOPKINS ONCOL CTR,BALTIMORE,MD 21231

[2] HUMAN GENOME SCI INC,ROCKVILLE,MD 20850

[3] INST GENOM RES,GAITHERSBURG,MD 20878

[4] JOHNS HOPKINS UNIV,SCH MED,DEPT PATHOL,BALTIMORE,MD 21205

[5] JOHNS HOPKINS UNIV,SCH MED,DEPT ONCOL,BALTIMORE,MD 21205

[6] JOHNS HOPKINS UNIV,SCH PUBL HLTH & HYG,DEPT EPIDEMIOL,BALTIMORE,MD 21205

[7] CREIGHTON UNIV,SCH MED,DEPT PREVENT MED,OMAHA,NE 68178

[8] CREIGHTON UNIV,SCH MED,DEPT PUBL HLTH,OMAHA,NE 68178

[9] UNIV HELSINKI,DEPT MED GENET,SF-00290 HELSINKI,FINLAND

来源：

SCIENCE | 1994年 / 263卷 / 5153期

关键词：

D O I：

10.1126/science.8128251

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：

Some cases of hereditary nonpolyposis colorectal cancer (HNPCC) are due to alterations in a mutS-related mismatch repair gene. A search of a large database of expressed sequence tags derived from random complementary DNA clones revealed three additional human mismatch repair genes, all related to the bacterial mutL gene. One of these genes (hMLH1) resides on chromosome 3p21, within 1 centimorgan of markers previously linked to cancer susceptibility in HNPCC kindreds. Mutations of hMLH1 that would disrupt the gene product were identified in such kindreds, demonstrating that this gene is responsible for the disease. These results suggest that defects in any of several mismatch repair genes can cause HNPCC.

引用

页码：1625 / 1629

页数：5

共 35 条

[1] CLUES TO THE PATHOGENESIS OF FAMILIAL COLORECTAL-CANCER
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
[J]. SCIENCE, 1993, 260 (5109) : 812 - 816
[2] 3,400 NEW EXPRESSED SEQUENCE TAGS IDENTIFY DIVERSITY OF TRANSCRIPTS IN HUMAN BRAIN
ADAMS, MD
KERLAVAGE, AR
FIELDS, C
VENTER, JC
[J]. NATURE GENETICS, 1993, 4 (03) : 256 - 267
[3] SEQUENCE IDENTIFICATION OF 2,375 HUMAN BRAIN GENES
ADAMS, MD
DUBNICK, M
KERLAVAGE, AR
MORENO, R
KELLEY, JM
UTTERBACK, TR
NAGLE, JW
FIELDS, C
VENTER, JC
[J]. NATURE, 1992, 355 (6361) : 632 - 634
[4] COMPLEMENTARY-DNA SEQUENCING - EXPRESSED SEQUENCE TAGS AND HUMAN GENOME PROJECT
ADAMS, MD
KELLEY, JM
GOCAYNE, JD
DUBNICK, M
POLYMEROPOULOS, MH
XIAO, H
MERRIL, CR
WU, A
OLDE, B
MORENO, RF
KERLAVAGE, AR
MCCOMBIE, WR
VENTER, JC
[J]. SCIENCE, 1991, 252 (5013) : 1651 - 1656
[5] BASIC LOCAL ALIGNMENT SEARCH TOOL
ALTSCHUL, SF
GISH, W
MILLER, W
MYERS, EW
LIPMAN, DJ
[J]. JOURNAL OF MOLECULAR BIOLOGY, 1990, 215 (03) : 403 - 410
[6] THE HUMAN MUTATOR GENE HOMOLOG MSH2 AND ITS ASSOCIATION WITH HEREDITARY NONPOLYPOSIS COLON-CANCER
FISHEL, R
LESCOE, MK
RAO, MRS
COPELAND, NG
JENKINS, NA
GARBER, J
KANE, M
KOLODNER, R
[J]. CELL, 1993, 75 (05) : 1027 - 1038
[7] A SIMPLE AND EFFICIENT METHOD FOR DIRECT CLONING OF PCR PRODUCTS USING DDT-TAILED VECTORS
HOLTON, TA
GRAHAM, MW
[J]. NUCLEIC ACIDS RESEARCH, 1991, 19 (05) : 1156 - 1156
[8] UBIQUITOUS SOMATIC MUTATIONS IN SIMPLE REPEATED SEQUENCES REVEAL A NEW MECHANISM FOR COLONIC CARCINOGENESIS
IONOV, Y
PEINADO, MA
MALKHOSYAN, S
SHIBATA, D
PERUCHO, M
[J]. NATURE, 1993, 363 (6429) : 558 - 561
[9] EVOLUTION OF HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER
JASS, JR
STEWART, SM
[J]. GUT, 1992, 33 (06) : 783 - 786
[10] JASS JR, UNPUB

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