Bibliothèque de L'IMIST/CNRST

A 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.

Includes bibliographical references and index.

The CMT1A duplication: a historical perspective viewed from two sides of an ocean / James R. Lupski and Vincent Timmerman -- Alu elements / Prescott Deininger -- The impact of LINE-1 retrotransposition on the human genome / Amy E. Hulme ... [and others] -- Ancient transposable elements, processed pseudogenes, and endogenous retroviruses / Adam Pavlicek and Jerzy Jurka -- Segmental duplications / Andrew J. Sharp and Evan E. Eichler -- Non-B DNA and chromosomal rearrangements / Albino Bacolla and Robert D. Wells -- Genetic basis of olfactory deficits / Idan Menashe, Ester Feldmesser, and Doron Lancet -- Genomic organization and function of human centromeres / Huntington F. Willard and M. Katharine Rudd -- Primate chromosome evolution / Stefan Müller -- Genome plasticity in evolution: the centromere repositioning / Mariano Rocchi and Nicoletta Archidiacono.

The CMT1A duplication and HNPP deletion / Vincent Timmerman and James R. Lupski -- Smith-Magenis syndrome deletion, reciprocal duplication dup(17)(p11.2p11.2), and other proximal 17p rearrangements / Paweł Stankiewicz, Weimin Bi, and James R. Lupski -- Chromosome 22q11.2 rearrangement disorders / Bernice E. Morrow -- Neurofibromatosis 1 / Karen Stephens -- Williams-Beuren syndrome / Stephen W. Scherer and Lucy R. Osborne -- Sotos syndrome / Naohiro Kurotaki and Naomichi Matsumoto -- X chromosome rearrangements / Pauline H. Yen -- Pelizaeus-Merzbacher disease and spastic paraplegia type 2 / Ken Inoue -- Y-chromosomal rearrangements and azoospermia / Matthew E. Hurles and Chris Tyler-Smith.

Inversion chromosomes / Orsetta Zuffardi ... [and others] -- Monosomy 1p36 as a model for the molecular basis of terminal deletions / Blake C. Ballif and Lisa G. Shaffer -- Inv dup(15) and inv dup(22) / Heather E. McDermid and Rachel Wevrick -- Mechanisms underlying neoplasia-associated genomic rearrangements / Thoas Fioretos -- Recombination hotspots in nonallelic homologous recombination / Matthew E. Hurles and James R. Lupski -- Position effects / Paweł Stankiewicz -- Chromosome-engineered mouse models / Pentao Liu -- Array-CGH for the analysis of constitutional genomic rearrangements / Nigel P. Carter ... [and others] -- Appendix A: Well-characterized rearrangement-based diseases and genome structural features at the locus / Paweł Stankiewicz and James R. Lupski -- Appendix B: Diagnostic potential for chromosome microarray analysis / Paweł Stankiewicz, Sau W. Cheung and Arthur L. Beaudet.