Role and Regulation of the RECQL4 Family during Genomic Integrity Maintenance

Genes

Kara A. Bernstein¹  Thong T. Luong¹ 

[1] Department of Pharmacology and Chemical Biology, UPMC Hillman Cancer Center, University of Pittsburgh School of Medicine, 5117 Centre Avenue, Pittsburgh, PA 15213, USA;

关键词: RECQL4;    genome stability;    replication;    telomere;    double-strand break repair;    base excision repair;   

DOI  :  10.3390/genes12121919

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown