Genomic Disorders The Genomic Basis Of Disease by James R. Lupski , Pawel T. Stankiewicz , Springer

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Springer Genomic Disorders The Genomic Basis Of Disease by James R. Lupski , Pawel T. Stankiewicz

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._x000D_ _x000D_Part I. Introduction_x000D_ _x000D_ The CMT1A Duplication: A Historical Perspective Viewed From Two Sides of an Ocean_x000D_ James R. Lupski and Vincent Timmerman_x000D_ _x000D_ Part II. Genomic Structure_x000D_ _x000D_ Alu Elements_x000D_ Prescott Deininger_x000D_ _x000D_ The Impact of LINE-1 Retrotransposition on the Human Genome_x000D_ Amy E. Hulme, Deanna A. Kulpa, Jose Luis Garcia Perez, and John V. Moran_x000D_ _x000D_ Ancient Transposable Elements, Processed Pseudogenes, and Endogenous Retroviruses_x000D_ Adam Pavlicek and Jerzy Jurka_x000D_ _x000D_ Segmental Duplications_x000D_ Andrew J. Sharp and Evan E. Eichler_x000D_ _x000D_ Non-B DNA and Chromosomal Rearrangements_x000D_ Albino Bacolla and Robert D. Wells_x000D_ _x000D_ Genetic Basis of Olfactory Deficits_x000D_ Idan Menashe, Ester Feldmesser, and Doron Lancet_x000D_ _x000D_ Genomic Organization and Function of Human Centromeres_x000D_ Huntington F. Willard and M. Katharine Rudd_x000D_ _x000D_ Part III. Genome Evolution_x000D_ _x000D_ Primate Chromosome Evolution_x000D_ Stefan Muller_x000D_ _x000D_ Genome Plasticity in Evolution: The Centromere Repositioning_x000D_ Mariano Rocchi and Nicoletta Archidiacono_x000D_ _x000D_ Part IV. Genomic Rearrangements and Disease Traits_x000D_ _x000D_ The CMT1A Duplication and HNPP Deletion_x000D_ Vincent Timmerman and James R. Lupski_x000D_ _x000D_ Smith-Magenis Syndrome Deletion, Reciprocal Duplication dup(17)(p11.2p11.2), and Other Proximal 17p Rearrangements_x000D_ Pawel Stankiewicz, Weimin Bi, and James R. Lupski_x000D_ _x000D_ Chromosome 22q11.2 Rearrangement Disorders_x000D_ Bernice E. Morrow_x000D_ _x000D_ Neurofibromatosis 1_x000D_ Karen Stephens_x000D_ _x000D_ Williams-Beuren Syndrome_x000D_ Stephen W. Scherer and Lucy R. Osborne_x000D_ _x000D_ Sotos Syndrome_x000D_ Naohiro Kurotaki and Naomichi Matsumoto_x000D_ _x000D_ X Chromosome Rearrangements_x000D_ Pauline H. Yen_x000D_ _x000D_ Pelizaeus-Merzbacher Disease and Spastic Paraplegia Type 2_x000D_ Ken Inoue_x000D_ _x000D_ Y-Chromosomal Rearrangements and Azoospermia_x000D_ Matthew E. Hurles and ChrisTyler-Smith_x000D_ _x000D_ Inversion Chromosomes_x000D_ Orsetta Zuffardi, Roberto Ciccone, Sabrina Giglio, and Tiziano Pramparo_x000D_ _x000D_ Monosomy 1p36 As a Model for the Molecular Basis of Terminal Deletions_x000D_ Blake C. Ballif and Lisa G. Shaffer. _x000D_ _x000D_ inv dup(15) and inv dup(22)_x000D_ Heather E. McDermid and Rachel Wevrick_x000D_ _x000D_ Mechanisms Underlying Neoplasia-Associated Genomic Rearrangements_x000D_ Thoas Fioretos_x000D_ _x000D_ Part. V. Functional Aspects of Genome Structure_x000D_ _x000D_ Recombination Hotspots in Nonallelic Homologous Recombination_x000D_ Matthew E. Hurles and James R. Lupski_x000D_ _x000D_ Position Effects_x000D_ Pawel Stankiewicz_x000D_ _x000D_ Part. VI. Genomic Disorders: Modeling and Assays_x000D_ _x000D_ Chromosome-Engineered Mouse Models_x000D_ Pentao Liu_x000D_ _x000D_ Array-CGH for the Analysis of Consitutional Genomic Rearrangements_x000D_ Nigel P. Carter, Heike Fiegler, Susan Gribble, and Richard Redon_x000D_ _x000D_ Part. VII. Appendices_x000D_ _x000D_ Appendix A: Well-Characterized Rearrangement-Based Diseases and Genome Structural Features at the Locus_x000D_ Pawel Stankiewicz and James R. Lupski_x000D_ _x000D_ Appendix B: Diagnostic Potential for Chromosome Microarray Analysis_x000D_ Pawel Stankiewicz, Sau W. Cheung, and Arthur L. Beaudet_x000D_ _x000D_ Index_x000D_