RecQ helicase

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RecQ helicase


RecQ helicase is a type of DNA helicase enzyme that plays a crucial role in the maintenance of genome stability. These enzymes are highly conserved throughout evolution, indicating their importance in cellular processes. RecQ helicases are involved in various aspects of DNA metabolism, including DNA replication, DNA repair, and recombination. Their main function is to unwind double-stranded DNA (dsDNA) into single strands, allowing other proteins involved in these processes to access the DNA.

The importance of RecQ helicases is underscored by the fact that mutations in these enzymes are linked to several human genetic disorders, such as Werner syndrome (WS), Bloom syndrome (BS), and Rothmund-Thomson syndrome (RTS). These syndromes are characterized by features such as premature aging (in the case of WS), increased susceptibility to cancer (especially in BS), and developmental abnormalities (seen in RTS).

There are five known RecQ helicases in humans: WRN, BLM, RECQL, RECQL4, and RECQL5, each with distinct roles in DNA metabolism and maintenance. For example, WRN and BLM have been extensively studied for their roles in suppressing genomic instability, which is a hallmark of cancer cells.

Research into RecQ helicases continues to be a vibrant field, with studies aiming to understand the detailed mechanisms of these enzymes and their interactions with other proteins involved in DNA repair and replication. This knowledge is crucial for developing potential therapeutic strategies for diseases associated with RecQ helicase dysfunction.

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Contributors: Prab R. Tumpati, MD