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Genomic Disorders
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Genomic Disorders

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ISBN-13:
9781597450393
Einband:
Ebook
Erscheinungsdatum:
15.04.2006
Seiten:
448
eBook Typ:
PDF
eBook Format:
PDF
Kopierschutz:
1 - PDF Watermark
Sprache:
Englisch
Beschreibung:

"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."
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 Chris Tyler-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
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.