Full Description
Cancer and other genetic human diseases are caused by a variety of mutations, ranging from subtle sequence changes to larger genomic rearrangements and alterations in chromosome number (aneuploidy). With contributions by reputed experts, this book aims to update the knowledge on the multiple mechanisms of genomic instability leading to human disease. Emphasis is given to the different types of genomic sequences involved in disease-related genomic rearrangements as well as to the various exogenous factors increasing the frequency of mutations. Several chapters are dedicated to the dysfunction of important cellular mechanisms like DNA repair and chromosome segregation, which may cause genomic instability and result in tumorigenesis. Important 'caretaker' genes controlling the stability of our genome have been identified through their defect in genomic instability syndromes, which are also extensively reviewed in this volume. This book provides an important update not only for investigators in biology and medicine, but also for physicians and anyone interested in the molecular basis of human disease.
Contents
Preface; The Genomic Basis of Disease, Mechanisms and Assays for Genomic Disorders: Stankiewicz, P.; Lupski, J.R.; Gross Deletions and Translocations in Human Genetic Disease: Abeysinghe, S.S.; Chuzhanova, N.; Cooper, D.N.; Nucleotide Excision Repair and Related Human Diseases: Bergoglio, V.; Magnaldo, T.; Oxidative Damage to DNA in Non-Malignant Disease: Biomarker or Biohazard?: Evans, M.D.; Cooke, M.S.; Dominant Non-Coding Repeat Expansions in Human Disease: Dick, K.A.; Margolis, J.M.; Day, J.W.; Ranum, L.P.W.; Telomeres and Telomerase in Stem Cells during Aging and Disease: Ju, Z.; Rudolph, K.L.; Retrotransposable Elements and Human Disease: Callinan, P.A.; Batzer, M.A.; The Spindle Checkpoint and Chromosomal Stability: Qi, W.; Yu, H.; Protein Kinases That Regulate Chromosome Stability and Their Downstream Targets: Nojima, H.; The Role of the APC Tumor Suppressor in Chromosomal Instability: Alberici, P.; Fodde, R.; c-Myc, Genomic Instability and Disease: Kuttler, F.; Mai, S.; Nijmegen Breakage Syndrome and Functions of the Responsible Protein, NBS1: Antoccia, A.; Kobayashi, J.; Tauchi, H.; Matsuura, S.; Komatsu, K.; Werner Syndrome, Aging and Cancer: Ozgenc, A.; Loeb, L.A.; Fanconi Anemia: Consequences of Genetic Instability: Kalb, R.; Neveling, K.; Nanda, I.; Schindler, D.; Hoehn, H.; Author Index; Subject Index.
