منابع مشابه
trinucleotide repeats ataxia
the hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. frequently, atrophy of the cerebellum occurs. the hereditary ataxias are categorized by mode of inheritance and causative gene or chromosomal locus. genetic forms of ataxia must be distinguished from t...
متن کاملTrinucleotide repeats and neurodegenerative disease.
Major insights have been attained into the molecular pathology of the trinucleotide repeat neurodegenerative diseases over the past decade. Genetic definition has allowed subclassification into translated polyglutamine diseases, which are due to CAG repeat expansions, and a more heterogeneous group in which the trinucleotide repeat remains untranslated. The polyglutamine disorders are due to a ...
متن کاملTrinucleotide Repeats: A Structural Perspective
Trinucleotide repeat (TNR) expansions are present in a wide range of genes involved in several neurological disorders, being directly involved in the molecular mechanisms underlying pathogenesis through modulation of gene expression and/or the function of the RNA or protein it encodes. Structural and functional information on the role of TNR sequences in RNA and protein is crucial to understand...
متن کاملTrinucleotide repeats in human genome and exome
Trinucleotide repeats (TNRs) are of interest in genetics because they are used as markers for tracing genotype-phenotype relations and because they are directly involved in numerous human genetic diseases. In this study, we searched the human genome reference sequence and annotated exons (exome) for the presence of uninterrupted triplet repeat tracts composed of six or more repeated units. A li...
متن کاملMismatched nucleotides may facilitate expansion of trinucleotide repeats in genetic diseases.
We have studied the contribution of mismatch sequences to the trinucleotide repeat expansion that causes hereditary diseases. Using an oligonucleotide duplex, (CAG)5/(CTG)5, as a template-primer, DNA synthesis was carried out using either Escherichia coli DNA polymerase I (Klenow fragment) or human immunodeficiency virus type I reverse transcriptase (HIV-RT). Both enzymes expanded the repeat se...
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ژورنال
عنوان ژورنال: Nature
سال: 1995
ISSN: 0028-0836,1476-4687
DOI: 10.1038/378127a0