Human diseases deficient in RecQ helicases.
RecQ helicases are conserved from bacteria to man. Mutations in three of the human RecQ family members give rise to genetic disorders characterized by genomic instability and a predisposition to cancer. RecQ helicases are therefore caretakers of the genome, and although they do not directly regulate tumorigenesis, they influence stability and the rate of accumulation of genetic alterations, which in turn, result in tumorigenesis. Maintenance of genome stability by RecQ helicases likely involves their participation in DNA replication, recombination, and repair pathways.
Harrigan
J A
JA
Laboratory of Molecular Gerontology, National Institute on Aging, NIH, 5600 Nathan Shock Drive, Baltimore, MD 21224, USA.
Bohr
V A
VA
D000251:Adenosine Triphosphatases / Q000737:chemistry; D001816:Bloom Syndrome / Q000235:genetics / Q000503:physiopathology*; D004265:DNA Helicases / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D006801:Humans; D053484:RecQ Helicases; D011038:Rothmund-Thomson Syndrome / Q000235:genetics / Q000503:physiopathology*; D014898:Werner Syndrome / Q000235:genetics / Q000503:physiopathology*
D000251:Adenosine Triphosphatases; C506725:RECQL protein, human; D004265:DNA Helicases; D053484:RecQ Helicases