附註:Issued as: Cytogenetic and genome research, v. 100, no. 1-4 (2003).
"Single topic volume."
Includes bibliographical references and indexes.
Preface -- Trinucleotide repeat instability: a hairpin curve at the crossroads of replication, recombination, and repair -- The contribution of cis- elements to disease- associated repeat instability: clinical and experimental evidence -- Reactivation of silenced genes and transcriptional therapy -- Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia -- Rare fragile sites -- The rare human fragile site 16B -- Forgotten fragile sites and related phenomena.
Common fragile sites -- WWOX, the common chromosomal fragile site, FRA16D, cancer gene -- Understanding fragile X syndrome: insights from animal models -- Expression of the FMR1 gene -- FMR2 function: insight from a mouse knockout model -- Instability of the fragile X syndrome repeat in mice: the effect of age, diet and mutations in genes that affect DNA replication, recombination and repair proficiency -- Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders -- Spinocerebellar ataxia 7 (SCA7)
Insights into the molecular basis of polyglutamine neurodegeneration from studies of a spinocerebellar ataxia type 7 mouse model -- Molecular genetics of spinocerebellar ataxia type 8 (SCA8) -- SCA10 and ATTCT repeat expansion: clinical features and molecular aspects -- Why is SCA12 different from other SCAs? -- The hereditary spinocerebellar ataxias in Japan -- A cerebellar tremor/ataxia syndrome among fragile X premutation carriers -- The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12- mer repeat expansion.
Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1 -- Transgenic mouse models for myotonic dystrophy type 1 (DM1) -- Transgenic mouse models of spinal and bulbar muscular atrophy (SBMA) -- Oculopharyngeal muscular dystrophy: a late- onset polyalanine disease -- Molecular analyses of Machado-Joseph disease -- The use of transgenic and knock-in mice to study Huntington's disease -- Mechanisms of neuronal cell death in Huntington's disease.
摘要:DNA repeat expansion is the mutational mechanism in a number of high-profile genetic diseases such as fragile X syndrome, myotonic dystrophy and Huntington's disease. Since the discovery of this mechanism more than a decade ago many new findings have been reported, and the study of repeat expansion has virtually become a sub-specialty of human molecular genetics. This special issue of Cytogenetic and Genome Research reviews numerous aspects of nucleotide repeat expansion, mutations, and the proteins affected, including mechanisms of expansion, the molecular basis of repeat-associated disorders, animal models, and clinical insights. Several papers focus on rare and common fragile sites, discussing in detail what is currently known and evaluating their contribution to human disease. This highly authoritative series of articles written by leading investigators is recommended reading not only to students but also to scientists experienced in human genetics and clinicians dealing with patients suffering from repeat expansion disorders.
