Genomic Disorders

1. Front Matter

   Pages i-xvii

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2. Introduction

   1. Front Matter

      Pages 1-1

      PDF

   2. The CMT1A Duplication

      • James R. Lupski, Vincent Timmerman

      Pages 3-17

3. Genomic Structure

   1. Front Matter

      Pages 19-19

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   2. Alu Elements

      • Prescott Deininger

      Pages 21-34

   3. The Impact of LINE-1 Retro transposition on the Human Genome

      • Amy E. Hulme, Deanna A. Kulpa, José Luis Garcia Perez, John V. Moran

      Pages 35-55

   4. Ancient Transposable Elements, Processed Pseudogenes, and Endogenous Retroviruses

      • Adam Pavlicek, Jerzy Jurka

      Pages 57-72

   5. Segmental Duplications

      • Andrew J. Sharp, Evan E. Eichler

      Pages 73-88

   6. Non-B DNA and Chromosomal Rearrangements

      • Albino Bacolla, Robert D. Wells

      Pages 89-99

   7. Genetic Basis of Olfactory Deficits

      • Idan Menashe, Ester Feldmesser, Doron Lancet

      Pages 101-113

   8. Genomic Organization and Function of Human Centromeres

      • Huntington E Willard, M. Katharine Rudd

      Pages 115-129

4. Genome Evolution

   1. Front Matter

      Pages 131-131

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   2. Primate Chromosome Evolution

      • Stefan Müller

      Pages 133-152

   3. Genome Plasticity in Evolution

      • Mariano Rocchi, Nicoletta Archidiacono

      Pages 153-165

5. Genomic Rearrangements and Disease Traits

   1. Front Matter

      Pages 167-167

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   2. The CMT1A Duplication and HNPP Deletion

      • Vincent Timmerman, James R. Lupski

      Pages 169-178

   3. Smith-Magenis Syndrome Deletion, Reciprocal Duplication dup(17)(p11.2p11.2), and Other Proximal 17p Rearrangements

      • Pawel Stankiewicz, Weimin Bi, James R. Lupski

      Pages 179-191

   4. Chromosome 22q11.2 Rearrangement Disorders

      • Bernice E. Morrow

      Pages 193-206

   5. Neurofibromatosis 1

      • Karen Stephens

      Pages 207-219

   6. Williams-Beuren Syndrome

      • Stephen W. Scherer, Lucy R. Osborne

      Pages 221-236

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.

• DNA
• chromosome
• diseases
• evolution
• genome
• genome structure
• microarray
• mouse
• organizations
• retroviruses

"...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

• Department of Molecular and Human Genetics, Baylor College of Medicine, Houston

  James R. Lupski, Pawel Stankiewicz

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