RecQlike

RecQ-like proteins are a family of DNA helicases found in eukaryotes. They are named after the bacterial RecQ helicase, which plays a crucial role in DNA repair and recombination. The RecQ-like family in humans comprises five members: BLM, WRN, RECQL, RECQL4, and RECQL5. These proteins are essential for maintaining genomic stability and are involved in various DNA metabolic processes, including DNA replication, transcription, repair, and recombination.

The conserved domain structure of RecQ-like proteins includes a helicase domain and a RecQ-conserved C-terminal (HRDC) domain. These domains are responsible for their helicase activity, which involves unwinding DNA strands, and for interacting with other proteins involved in DNA metabolism. Mutations in human RecQ-like genes are associated with severe genetic disorders, underscoring their critical functions. For instance, mutations in BLM cause Bloom syndrome, characterized by genomic instability, increased cancer risk, and characteristic facial features. Similarly, mutations in WRN lead to Werner syndrome, a premature aging disorder with increased susceptibility to cancer. Mutations in RECQL4 are linked to Rothmund-Thomson syndrome, which involves skin abnormalities, skeletal defects, and early-onset cataracts.

The precise mechanisms by which RecQ-like proteins function are still being actively researched. However, it is understood that they act as "genome guardians," identifying and resolving DNA structures that could impede cellular processes or lead to mutations. Their involvement in diverse DNA pathways highlights their fundamental importance in preventing genomic instability and disease.