Biochemistry and Genetics of RecQ-Helicases

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Biochemistry And Genetics of RecQ-Helicases provides a background into the role of helicases in general and RecQ helicases specifically in DNA repair. Helicases- enzymes which break down hydrogen bonds between nucleic acid strands in a nucleoside triphosphate-dependent manner-are ubiquitous in biology, participating in processes as diverse as replication, repair, recombination, transcription, and translation. The RecQ-family helicases are a group of helicases which have important roles in the maintenance of genomic stability in many organisms. In humans, mutations in three RecQ-family helicases lead to disease. This book thoroughly examines these helicases. Mutations in the BLM gene lead to Bloom syndrome, a disorder characterized by a susceptibility to many types of cancer. Mutations in the WRN gene cause Werner syndrome, a disease which in some respects resembles premature aging. Finally, mutations in a newly characterized RecQ-family member, RECQ4, may lead to the very rare recessive disorder Rothmund-Thomson syndrome, a condition characterized by developmental abnormalities and some aging-like manifestations. This book is intended for any researchers invested in these particular disorders, or with a general interest in DNA.

Author(s): David B. Lombard Ph.D. (auth.)
Edition: 1
Publisher: Springer US
Year: 2001

Language: English
Pages: 92
Tags: Human Genetics; Evolutionary Biology; Zoology; Animal Anatomy / Morphology / Histology; Life Sciences, general

Front Matter....Pages i-1
The RecQ-family helicases....Pages 3-19
Targeting the WRN Locus in the mouse....Pages 21-41
Interaction of the BLM protein with Topo III alpha in Somatic and meiotic cells....Pages 43-58
Nijmegen Breakage Syndrome disease protein and Mre11 at PML Nuclear Bodies and meiotic telomeres....Pages 59-76
Back Matter....Pages 77-92