TY - JOUR
T1 - RECQL4 in genomic instability and aging
AU - Croteau, Deborah L.
AU - Singh, Dharmendra Kumar
AU - Hoh Ferrarelli, Leslie
AU - Lu, Huiming
AU - Bohr, Vilhelm A.
N1 - Funding Information:
We would like to thank Martin Borch Jensen and Dr Venkateswarlu Popuri for critically reading the manuscript. We would like to thank Thomas Wynn for his artwork. This research was supported entirely by the Intramural Research Program of the National Institutes of Health, National Institute on Aging, AG000726–20.
PY - 2012/12
Y1 - 2012/12
N2 - Helicases are ubiquitous proteins that unwind DNA and participate in DNA metabolism including replication, repair, transcription, and chromatin organization. The highly conserved RecQ helicase family proteins are important in these transactions and have been termed the guardians of the genome. Humans have five members of this family: WRN, BLM, RECQL4, RECQL1, and RECQL5. The first three of are associated with premature aging and cancer prone syndromes, but the latter two proteins have not yet been implicated in any human disease. Although WRN and BLM have been fairly well characterized, RECQL4 has only recently been intensively investigated. The sum of this work to date has shown that RECQL4 has helicase activity and localizes to telomeres and mitochondria. In addition, new protein partners are emerging, implicating RECQL4 in novel processes. Here, we describe these recent findings which place RECQL4 at the crossroads of genomic instability and aging processes.
AB - Helicases are ubiquitous proteins that unwind DNA and participate in DNA metabolism including replication, repair, transcription, and chromatin organization. The highly conserved RecQ helicase family proteins are important in these transactions and have been termed the guardians of the genome. Humans have five members of this family: WRN, BLM, RECQL4, RECQL1, and RECQL5. The first three of are associated with premature aging and cancer prone syndromes, but the latter two proteins have not yet been implicated in any human disease. Although WRN and BLM have been fairly well characterized, RECQL4 has only recently been intensively investigated. The sum of this work to date has shown that RECQL4 has helicase activity and localizes to telomeres and mitochondria. In addition, new protein partners are emerging, implicating RECQL4 in novel processes. Here, we describe these recent findings which place RECQL4 at the crossroads of genomic instability and aging processes.
KW - Aging
KW - Cancer
KW - RecQ helicase
KW - Rothmund-Thomson syndrome
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U2 - 10.1016/j.tig.2012.08.003
DO - 10.1016/j.tig.2012.08.003
M3 - Review article
C2 - 22940096
AN - SCOPUS:84869083251
SN - 0168-9525
VL - 28
SP - 624
EP - 631
JO - Trends in Genetics
JF - Trends in Genetics
IS - 12
ER -