Human RECQL5: guarding the crossroads of DNA replication and transcription and providing backup capability.

[werner syndrome]

DNA helicases are ubiquitous enzymes that catalyze unwinding of duplex DNA and function in all metabolic processes in which access to single -stranded DNA is required , including DNA replication , repair , recombination and RNA transcription . RecQ helicases are a conserved family of DNA helicases that display highly specialized and vital roles in the maintenance of genome stability . Mutations in three of the five human RecQ helicases , BLM , WRN and RECQL 4 are associated with the genetic disorders Bloom syndrome , Werner syndrome and Rothmund-Thomson syndrome that are characterized by chromosomal instability , premature aging and predisposition to cancer . The biological role of human RECQL 5 is only partially understood and RECQL 5 has not yet been associated with any human disease . Illegitimate recombination and replication stress are hallmarks of human cancers and common instigators for genomic instability and cell death . Recql 5 knockout mice are cancer prone and show increased chromosomal instability . Recql 5 -deficient mouse embryonic fibroblasts are sensitive to camptothecin and display elevated levels of sister chromatid exchanges . Unlike other human RecQ helicases , RECQL 5 is recruited to single -stranded DNA breaks and is also proposed to play an essential role in RNA transcription . Here , we review the established roles of RECQL 5 at the cross roads of DNA replication , recombination and transcription , and propose that human RECQL 5 provides important backup functions in the absence of other DNA helicases .

Diseases
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Diseases presenting "the genetic disorders bloom syndrome" symptom

werner syndrome

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