Genomic Disorders: The Genomic Basis of Disease

ISBN-13: 9781617376429 / Angielski / Miękka / 2010 / 426 str.

James R. Lupski; Pawel T. Stankiewicz

Opis

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.

Recenzje

"...an attempt to bridge the gap between genomic technology and clinical applications of genomic knowledge." -Doody's Book Review, Weighted Numerical Score: 84 - 3 stars

"...a unique contribution in a very specialized field." -Doody's Book Review, Weighted Numerical Score: 84 - 3 stars

Spis treści

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

Blurb

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.