Genomic Disorders : The Genomic Basis of Disease

It is now abundantly clear that architectural features of the human genome can lead to DNA rearrangements that cause both disease and behavioral traits. In Genomic Disorders: The Genomic Basis of Disease, distinguished experts and pioneers in the field of genomics and genome rearrangements summarize and synthesize the tremendous amount of data now available in the postgenomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to evolution and explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and 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. Comprehensive and clinically relevant, Genomic Disorders: The Genomic Basis of Disease offers genome and clinical genetics researchers not only an up-to-date survey of genome architecture, but also details those rearrangements that can be the underlying cause or basis of many human traits and disorders. The CMT1A duplication: a historical perspective viewed from two sides of an ocean / James R. Lupski and Vincent Timmerman Alu repetitive elements / Prescott L. Deininger LINE elements and reshaping the genome / Amy E. Hulme ... [et al.] Other repetitive elements / Jerzy Jurka and Adam Pavlicek Segmental duplications / Andy Sharp and Evan E. Eichler Non-B DNA and chromosomal rearrangements / Albino Bacolla and Robert D. Wells Olfactory receptor genes / Idan Menashe, Ester Feldmesser, and Doron Lancet Genomic organization and function of human centromeres / Huntington F. Willard and Katherine Rudd Primate chromosome evolution / Stefan Møller Genome plasticity in evolution / Mariano Rocchi and Nicoletta Archidiacono CMT1A/HNPP / Vincent Timmerman and James R. Lupski SMS/dup(17)(p11.2p11.2) / Pawel Stankiewicz, Weimin Bi, and James R. Lupski Digeorge/velo-cardio-facial syndrome / Bernice E. Morrow Neurofibromatosis 1 / Karen Stephens Williams-Beuren syndrome / Stephen W. Scherer and Lucy R. Osborne Sotos syndrome / Naomichi Matsumoto and Naohiro Kurotaki X chromosome microdeletions / Pauline Yen Pelizaeus-Merzbacher disease and spastic paraplegia type 2: mechanistic similarities with and differences from Charcot-Marie-Tooth disease type 1A/hereditary neuropathy with liability to pressure palsies / Ken Inoue Azoospermia / Chris Tyler-Smith and Matt Hurles Inversion chromosomes / Orsetta Zuffardi ... [et al.] Terminal deletions including 1p36 / Blake C. Ballif and Lisa G. Shaffer Inv dup(15) and inv dup(22) / Heather E. McDermid and Rachel Wevrick Somatic rearrangements / Thoas Fioretos Recombination hotspots in nonallelic homologous recombination / Matt Hurles and James R. Lupski Position effect / Pawel Stankiewicz Chromosome engineered mouse models / Pentao Liu Array CGH to detect genomic rearrangements / Nigel P. Carter ... [et al.] Well-characterized rearrangement-based diseases and genome structural features at the locus / Pawel Stankiewicz and James R. Lupski. 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.