Human diseases deficient in RecQ helicases

被引：37

作者：

Harrigan, JA ^{[1
]}

Bohr, VA ^{[1
]}

机构：

[1] NIA, Lab Mol Gerontol, NIH, Baltimore, MD 21224 USA

来源：

BIOCHIMIE | 2003年 / 85卷 / 11期

关键词：

Bloom syndrome; helicase; RecQ; Rothmund-Thompson syndrome; Werner syndrome;

D O I：

10.1016/j.biochi.2003.10.006

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：

RecQ helicases are conserved from bacteria to man. Mutations in three of the human RecQ family members give rise to genetic disorders characterized by genomic instability and a predisposition to cancer. RecQ helicases are therefore caretakers of the genome, and although they do not directly regulate tumorigenesis, they influence stability and the rate of accumulation of genetic alterations, which in turn, result in tumorigenesis. Maintenance of genome stability by RecQ helicases likely involves their participation in DNA replication, recombination, and repair pathways. (C) 2003 Elsevier SAS. All rights reserved.

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页码：1185 / 1193

页数：9

相关论文

共 89 条

[1] ATM-dependent phosphorylation and accumulation of endogenous BLM protein in response to ionizing radiation [J].

Ababou, M ;

Dutertre, S ;

Lécluse, Y ;

Onclercq, R ;

Chatton, B ;

Amor-Guéret, M .

ONCOGENE, 2000, 19 (52) :5955-5963

[2] Telomere instability in a human tumor cell line expressing a dominant-negative WRN protein [J].

Bai, YL ;

Murnane, JP .

HUMAN GENETICS, 2003, 113 (04) :337-347

[3] An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome [J].

Balraj, P ;

Concannon, P ;

Jamal, R ;

Beghini, A ;

Hoe, TS ;

Khoo, AS ;

Volpi, L .

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2002, 508 (1-2) :99-105

[4] WRN interacts physically and functionally with the recombination mediator protein RAD52 [J].

Baynton, K ;

Otterlei, M ;

Bjorås, M ;

von Kobbe, C ;

Bohr, VA ;

Seeberg, E .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (38) :36476-36486

[5] The free radical theory of aging matures [J].

Beckman, KB ;

Ames, BN .

PHYSIOLOGICAL REVIEWS, 1998, 78 (02) :547-581

[6] RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient [J].

Beghini, A ;

Castorina, P ;

Roversi, G ;

Modiano, P ;

Larizza, L .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 120A (03) :395-399

[7] EXON RECOGNITION IN VERTEBRATE SPLICING [J].

BERGET, SM .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (06) :2411-2414

[8] RETRACTED: Selective cleavage of BLM, the Bloom syndrome protein, during apoptotic cell death (Retracted Article) [J].

Bischof, O ;

Galande, S ;

Farzaneh, F ;

Kohwi-Shigematsu, T ;

Campisi, J .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (15) :12068-12075

[9]

Bjergbaek L, 2002, SWISS MED WKLY, V132, P433

[10]

Brosh RM, 2001, EMBO J, V20, P5791

← 1 2 3 4 5 6 7 8 9 →