Microsatellite repeat instability and neurological disease
| Autor: | Ben A. Oostra, Judith R. Brouwer, Rob Willemsen |
|---|---|
| Přispěvatelé: | Clinical Genetics |
| Rok vydání: | 2009 |
| Předmět: |
Disease
Bulbo-Spinal Atrophy X-Linked Biology Instability General Biochemistry Genetics and Molecular Biology Article SDG 3 - Good Health and Well-being Microsatellite Repeat medicine Animals Humans Myotonic Dystrophy Spinocerebellar Ataxias Gene Genetics Models Genetic Microsatellite instability medicine.disease Disease Models Animal Huntington Disease Human material Fragile X Syndrome Microsatellite Ataxia Nervous System Diseases Trinucleotide repeat expansion Trinucleotide Repeat Expansion Microsatellite Repeats |
| Zdroj: | BioEssays. Advances in Molecular, Cellular and Developmental Biology, 31(1), 71-83. John Wiley & Sons Inc. |
| ISSN: | 0265-9247 |
| Popis: | Over 20 unstable microsatellite repeats have been identified as the cause of neurological disease in humans. The repeat nucleotide sequences, their location within the genes, the ranges of normal and disease-causing repeat length and the clinical outcomes differ. Unstable repeats can be located in the coding or the non-coding region of a gene. Different pathogenic mechanisms that are hypothesised to underlie the diseases are discussed. Evidence is given both from studies in simple model systems and from studies on human material and in animal models. Since somatic instability might affect the clinical outcome, this is briefly touched on. Available data and theories on the timing and mechanisms of the repeat instability itself are discussed, along with factors that have been observed to affect instability. Finally, the question of why the often harmful unstable repeats have been maintained throughout evolution is addressed. |
| Databáze: | OpenAIRE |
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