Biochemistry and Genetics of Recq-Helicases

1. Front Matter

   Pages i-1

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2. The RecQ-family helicases

   • David B. Lombard

   Pages 3-19

3. Targeting the WRN Locus in the mouse

   • David B. Lombard

   Pages 21-41

4. Interaction of the BLM protein with Topo III alpha in Somatic and meiotic cells

   • David B. Lombard

   Pages 43-58

5. Nijmegen Breakage Syndrome disease protein and Mre11 at PML Nuclear Bodies and meiotic telomeres

   • David B. Lombard

   Pages 59-76

6. Back Matter

   Pages 77-92

   PDF

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.

• DNA
• Mutation
• Nucleoside
• Telomere
• biochemistry
• biology
• cancer
• chemistry
• development
• enzymes
• genes
• genetics
• recombination
• transcription
• translation

• Massachusetts Institute of Technology, USA

  David B. Lombard

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