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Human RECQL1 participates in telomere maintenance.

Authors: Venkateswarlu V. Popuri, Joseph J. Hsu, Prabhat P. Khadka, Kent K. Horvath, Yie Y. Liu, Deborah L DL. Croteau, Vilhelm A VA. Bohr
Published: 03/12/2014, Nucleic acids research


A variety of human tumors employ alternative and recombination-mediated lengthening for telomere maintenance (ALT). Human RecQ helicases, such as BLM and WRN, can efficiently unwind alternate/secondary structures during telomere replication and/or recombination. Here, we report a novel role for RECQL1, the most abundant human RecQ helicase but functionally least studied, in telomere maintenance. RECQL1 associates with telomeres in ALT cells and actively resolves telomeric D-loops and Holliday junction substrates. RECQL1 physically and functionally interacts with telomere repeat-binding factor 2 that in turn regulates its helicase activity on telomeric substrates. The telomeric single-stranded binding protein, protection of telomeres 1 efficiently stimulates RECQL1 on telomeric substrates containing thymine glycol, a replicative blocking lesion. Loss of RECQL1 results in dysfunctional telomeres, telomere loss and telomere shortening, elevation of telomere sister-chromatid exchanges and increased aphidicolin-induced telomere fragility, indicating a role for RECQL1 in telomere maintenance. Further, our results indicate that RECQL1 may participate in the same pathway as WRN, probably in telomere replication.

© Published by Oxford University Press Nucleic Acids Research 2014. This work is written by (a) US Government employee(s) and is in the public domain in the US.
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