Rothstein, "The RecQ
DNA helicases in DNA repair," Annual Review of Genetics, vol.
Furthermore, there are other Mendelian syndromes with mutations in DNA repair genes that characteristically show adult noncommunicable diseases but do not have IUGR; such is the case for Werner syndrome, a progeroid disease caused by biallelic mutations in another RecQ
helicase (RecQ4) that clinically presents with postnatal short stature and a prevalence of type 2 diabetes mellitus of 70% [50, 70, 74].
Genetic Abnormalities Associated with Osteosarcoma in Human and Animal Models Osteosarcoma Human Genetic abnormalities P53, Rb, MDM2, RECQ
helicases, including inherited genes Telomere maintenance (96, 97).
It is caused by null mutations at WRN locus, which codes for a member of RecQ
family of DNA helicases.6-9,11 The disease is associated with excessive synthesis of collagen type I and III which is dependent on elevated messenger RNA(mRNA) levels.6 The locus of Werner Syndrome has been found on the short arm of chromosome 8 in both Japanese and non Japanes.5,7,11 Fibroblasts isolated from WS patients exhibit genomic instability, increased sensitivity to specific DNA damaging agents, slow proliferation, lengthened S-phase, and accelerated replicative senescence.5,7,16
BLM olarak isimlendirilen bu gen DNA onariminda onemli rol oynayan "RecQ
DNA helicase" enzimini kodlar.
ISOLATION AND CHARACTERIZATION OF A RECQ
DNA HELICASE FROM TETRAHYMENA THERMOPHILA.