Genomic Disorders : The Genomic Basis of Disease

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. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Part I. Introduction The CMT1A Duplication: A Historical Perspective Viewed From Two Sides of an Ocean James R. Lupski and Vincent Timmerman Part II. Genomic Structure Alu Elements Prescott Deininger The Impact of LINE-1 Retrotransposition on the Human Genome Amy E. Hulme, Deanna A. Kulpa, José Luis Garcia Perez, and John V. Moran 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 Part III. Genome Evolution Primate Chromosome Evolution Stefan Müller Genome Plasticity in Evolution: The Centromere Repositioning Mariano Rocchi and Nicoletta Archidiacono Part IV. Genomic Rearrangements and Disease Traits 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 Pawel 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 ChrisTyler-Smith Inversion Chromosomes Orsetta Zuffardi, Roberto Ciccone, Sabrina Giglio, and Tiziano Pramparo 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 Part. V. Functional Aspects of Genome Structure Recombination Hotspots in Nonallelic Homologous Recombination Matthew E. Hurles and James R. Lupski Position Effects Pawel Stankiewicz Part. VI. Genomic Disorders: Modeling and Assays Chromosome-Engineered Mouse Models Pentao Liu Array-CGH for the Analysis of Consitutional Genomic Rearrangements Nigel P. Carter, Heike Fiegler, Susan Gribble, and Richard Redon Part. VII. Appendices Appendix A: Well-Characterized Rearrangement-Based Diseases and Genome Structural Features at the Locus Pawel Stankiewicz and James R. Lupski Appendix B: Diagnostic Potential for Chromosome Microarray Analysis Pawel Stankiewicz, Sau W. Cheung, and Arthur L. Beaudet Index