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.
Cuprins
The CMT1A Duplication.- Genomic Structure.- Alu Elements.- The Impact of LINE-1 Retro transposition on the Human Genome.- Ancient Transposable Elements, Processed Pseudogenes, and Endogenous Retroviruses.- Segmental Duplications.- Non-B DNA and Chromosomal Rearrangements.- Genetic Basis of Olfactory Deficits.- Genomic Organization and Function of Human Centromeres.- Genome Evolution.- Primate Chromosome Evolution.- Genome Plasticity in Evolution.- Genomic Rearrangements and Disease Traits.- The CMT1A Duplication and HNPP Deletion.- Smith-Magenis Syndrome Deletion, Reciprocal Duplication dup(17)(p11.2p11.2), and Other Proximal 17p Rearrangements.- Chromosome 22q11.2 Rearrangement Disorders.- Neurofibromatosis 1.- Williams-Beuren Syndrome.- Sotos Syndrome.- X Chromosome Rearrangements.- Pelizaeus–Merzbacher Disease and Spastic Paraplegia Type 2.- Y-Chromosomal Rearrangements and Azoospermia.- Inversion Chromosomes.- Monosomy 1p36 As a Model for the Molecular Basis of Terminal Deletions.- inv dup(15) and inv dup(22).- Mechanisms Underlying Neoplasia-Associated Genomic Rearrangements.- Functional Aspects of Genome Structure.- Recombination Hotspots in Nonallelic Homologous Recombination.- Position Effects.- Genomic Disorders: Modeling And Assays.- Chromosome-Engineered Mouse Models.- Array-CGH for the Analysis of Constitutional Genomic Rearrangements.
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