期刊
GENES
卷 12, 期 12, 页码 -出版社
MDPI
DOI: 10.3390/genes12121919
关键词
RECQL4; genome stability; replication; telomere; double-strand break repair; base excision repair; mitochondria; nucleotide excision repair; DNA crosslink repair
资金
- National Institutes of Health [ES030335]
- Department of Defense [BC201356]
- Hillman Fellows for Innovative Cancer Research Program
RECQL4 is a crucial DNA helicase involved in maintaining genomic stability through its functions in DNA repair, recombination, and replication. It has unique roles in various central DNA repair pathways and mutations in RECQL4 are associated with three distinct genetic diseases characterized by developmental defects and/or cancer predisposition.
RECQL4 is a member of the evolutionarily conserved RecQ family of 3' to 5' DNA helicases. RECQL4 is critical for maintaining genomic stability through its functions in DNA repair, recombination, and replication. Unlike many DNA repair proteins, RECQL4 has unique functions in many of the central DNA repair pathways such as replication, telomere, double-strand break repair, base excision repair, mitochondrial maintenance, nucleotide excision repair, and crosslink repair. Consistent with these diverse roles, mutations in RECQL4 are associated with three distinct genetic diseases, which are characterized by developmental defects and/or cancer predisposition. In this review, we provide an overview of the roles and regulation of RECQL4 during maintenance of genome homeostasis.
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