Synopsis "biochemistry and genetics of recq-helicases"
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.