Genomic Disorders The Genomic Basis of Disease [Hardcover]

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.Part I. IntroductionThe CMT1A Duplication: A Historical Perspective Viewed From Two Sides of an OceanJames R. Lupski and Vincent TimmermanPart II. Genomic StructureAlu ElementsPrescott DeiningerThe Impact of LINE-1 Retrotransposition on the Human GenomeAmy E. Hulme, Deanna A. Kulpa, Jos? Luis Garcia Perez, and John V. MoranAncient Transposable Elements, Processed Pseudogenes, and Endogenous RetrovirusesAdam Pavlicek and Jerzy JurkaSegmental DuplicationsAndrew J. Sharp and Evan E. EichlerNon-B DNA and Chromosomal RearrangementsAlbino Bacolla and Robert D. WellsGenetic Basis of Olfactory DeficitsIdan Menashe, Ester Feldmesser, and Doron LancetGenomic Organization and Function of Human CelÓ