Genomic disorders
Subtitle: the genomic basis of disease
By: edited by James R. Lupski, Paweł Stankiewicz.
Contributors: Lupski, James R., 1957-; Stankiewicz, Paweł.
Publisher: Humana Press; Humana
Published: 2006
Place of publication: Totowa, N.J
Language: eng
Number of pages: 444
Subjects: Genetic disorders -- Molecular aspects; Genetic Diseases, Inborn; Chromosome Aberrations; Genome Components; Genome; Genomics -- methods
Description: A 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.
Notes: Includes bibliographical references and index.
Table of contents: title: The CMT1A duplication: a historical perspective viewed from two sides of an ocean / James R. Lupski and Vincent Timmerman; title: Alu repetitive elements / Prescott L. Deininger; title: LINE elements and reshaping the genome / Amy E. Hulme ... [et al.]; title: Other repetitive elements / Jerzy Jurka and Adam Pavlicek; title: Segmental duplications / Andy Sharp and Evan E. Eichler; title: Non-B DNA and chromosomal rearrangements / Albino Bacolla and Robert D. Wells; title: Olfactory receptor genes / Idan Menashe, Ester Feldmesser, and Doron Lancet; title: Genomic organization and function of human centromeres / Huntington F. Willard and Katherine Rudd; title: Primate chromosome evolution / Stefan Møller; title: Genome plasticity in evolution / Mariano Rocchi and Nicoletta Archidiacono; title: CMT1A/HNPP / Vincent Timmerman and James R. Lupski; title: SMS/dup(17)(p11.2p11.2) / Pawel Stankiewicz, Weimin Bi, and James R. Lupski; title: Digeorge/velo-cardio-facial syndrome / Bernice E. Morrow; title: Neurofibromatosis 1 / Karen Stephens; title: Williams-Beuren syndrome / Stephen W. Scherer and Lucy R. Osborne; title: Sotos syndrome / Naomichi Matsumoto and Naohiro Kurotaki; title: X chromosome microdeletions / Pauline Yen; title: Pelizaeus-Merzbacher disease and spastic paraplegia type 2: mechanistic similarities with and differences from Charcot-Marie-Tooth disease type 1A/hereditary neuropathy with liability to pressure palsies / Ken Inoue; title: Azoospermia / Chris Tyler-Smith and Matt Hurles; title: Inversion chromosomes / Orsetta Zuffardi ... [et al.]; title: Terminal deletions including 1p36 / Blake C. Ballif and Lisa G. Shaffer; title: Inv dup(15) and inv dup(22) / Heather E. McDermid and Rachel Wevrick; title: Somatic rearrangements / Thoas Fioretos; title: Recombination hotspots in nonallelic homologous recombination / Matt Hurles and James R. Lupski; title: Position effect / Pawel Stankiewicz; title: Chromosome engineered mouse models / Pentao Liu; title: Array CGH to detect genomic rearrangements / Nigel P. Carter ... [et al.]; title: Well-characterized rearrangement-based diseases and genome structural features at the locus / Pawel Stankiewicz and James R. Lupski.