Abstract
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.
Highlights
RECQL4 is a member of the evolutionarily conserved RecQ family of 3’ to 5’ DNA helicases
The resulting 1208 amino acid protein has a conserved core helicase domain, RECQL4 is quite different from the other RecQ helicases core helicase domain, RECQL4 is quite different from the other RecQ helicases as it does not contain the conserved helicase and RNAse D C-terminal (HRDC) domain, as it does not contain the conserved helicase and RNAse D C-terminal (HRDC) domain, which is needed for putative DNA binding (Figure 1A)
Later studies corroborated the importance of RECQL4 for mitochondrial maintenance, as disruption of RECQL4 mitochondrial localization signal (MLS) results in bioenergetics dysfunction indicated by increased aerobic glycolysis [107]
Summary
Maintaining genomic stability is crucial for preserving genetic information and preventing disease. Our cells have developed an intricate system of proteins and pathways to counteract these insults. One such family of proteins is the evolutionary conserved RecQ helicases, consisting of RECQL1, RECQL4, RECQL5, Bloom syndrome protein (BLM), and Werner syndrome. This family of 3’ to 5’ DNA helicases are referred to as the “Guardians of the Genome” through crucial roles in DNA recombination, replication, and repair [1,2,3,4,5,6]. Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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