Main description:

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.

Contents:

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, Jose 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 Muller

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