Triplet Repeat Diseases
نویسنده
چکیده
3 Type 1: The CAG/Polyglutamine Repeat Diseases 9 3.1 Spinal and Bulbar Muscular Atrophy 9 3.2 Huntington’s Disease 12 3.3 Dentatorubral Pallidoluysian Atrophy 15 3.4 Spinocerebellar Ataxia Type 1 16 3.5 Spinocerebellar Ataxia Type 2 18 3.6 Spinocerebellar Ataxia Type 3/Machado–Joseph Disease 19 3.7 Spinocerebellar Ataxia Type 6 21 3.8 Spinocerebellar Ataxia Type 7 22 3.9 Spinocerebellar Ataxia Type 17 25 3.10 Role of Aggregation in Polyglutamine Disease Pathogenesis 25 3.11 Protein Context 29 3.12 Transcriptional Dysregulation 30 3.13 Proteolytic Cleavage 30
منابع مشابه
Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells.
The genetic mutation in Friedreich ataxia (FRDA) is a hyperexpansion of the triplet-repeat sequence GAA·TTC within the first intron of the FXN gene. Although yeast and reporter construct models for GAA·TTC triplet-repeat expansion have been reported, studies on FRDA pathogenesis and therapeutic development are limited by the availability of an appropriate cell model in which to study the mechan...
متن کاملTriplet Repeat–Derived siRNAs Enhance RNA–Mediated Toxicity in a Drosophila Model for Myotonic Dystrophy
More than 20 human neurological and neurodegenerative diseases are caused by simple DNA repeat expansions; among these, non-coding CTG repeat expansions are the basis of myotonic dystrophy (DM1). Recent work, however, has also revealed that many human genes have anti-sense transcripts, raising the possibility that human trinucleotide expansion diseases may be comprised of pathogenic activities ...
متن کاملRegular paper Expression characteristics of triplet repeat-containing RNAs and triplet repeat-interacting proteins in human tissues
Numerous human transcripts contain tandem repeats of trinucleotide motifs, the function of which remains unknown. In this study we used the available gene expression EST data to characterize the abundance of a large group of these transcripts in different tissues and determine the mRNAs which had the highest contribution to the observed levels of transcripts containing different types of the CN...
متن کاملTriplet repeat RNA structure and its role as pathogenic agent and therapeutic target
This review presents detailed information about the structure of triplet repeat RNA and addresses the simple sequence repeats of normal and expanded lengths in the context of the physiological and pathogenic roles played in human cells. First, we discuss the occurrence and frequency of various trinucleotide repeats in transcripts and classify them according to the propensity to form RNA structu...
متن کاملRapid unwinding of triplet repeat hairpins by Srs2 helicase of Saccharomyces cerevisiae
Expansions of trinucleotide repeats cause at least 15 heritable human diseases. Single-stranded triplet repeat DNA in vitro forms stable hairpins in a sequence-dependent manner that correlates with expansion risk in vivo. Hairpins are therefore considered likely intermediates during the expansion process. Unwinding of a hairpin by a DNA helicase would help protect against expansions. Yeast Srs2...
متن کاملRole of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells
Triplet-repeat expansions cause several inherited human diseases. Expanded triplet-repeats are unstable in somatic cells, and tissue-specific somatic instability contributes to disease pathogenesis. In mammalian cells instability of triplet-repeats is dependent on the location of the origin of replication relative to the repeat tract, supporting the 'fork-shift' model of repeat instability. Dis...
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