Disease relevance of Recql

• Blm-deficient mice, like Bloom syndrome patients, have increased frequencies of mitotic recombination owing to a mutation in the RecQ protein-like-3 helicase gene [1].
• The gene responsible for Werner's syndrome encodes a protein that has a helicase domain homologous to Escherichia coli RecQ [2].
• Premature aging and predisposition to cancers caused by mutations in RecQ family helicases [3].

High impact information on Recql

• I also describe a hypothesis of "tissue-specific genomic instability" that accounts for the pathology behind multisymptomatic RecQ helicase syndromes [3].
• The RecQ helicase family includes helicases that have extensive amino acid sequence homologies to the E. coli DNA helicase RecQ, which has been implicated in double-strand break repair and suppression of illegitimate recombination [3].

Biological context of Recql

• Here we report the analysis of mice with null mutations of Wrn, Blm, and RecQ1 genes that are related to Mut-7 and Qde3, two genes essential for RNAi in Caenorhabditis elegans and quelling in Neurospora, respectively [4].

References