Fourteen and counting: unraveling trinucleotide repeat diseases
نویسندگان
چکیده
منابع مشابه
Trinucleotide repeat diseases - antecipation diseases
Dynamic mutations involve expansion of the number of repeat units consisting of three or more nucleotides in tandem (i.e. adjacent to one another) present in a gene or in its neighborhood. These repeats may occur in different genes and may code for different aminoacids. According to expansions sizes, it is possible to have unaffected individuals that are carriers of a pre-mutation. Instability ...
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DNA methylation of CpG dinucleotides is essential for mammalian development, X inactivation, genomic imprinting, and may also be involved in immobilization of transposons and the control of tissue-specific gene expression (Bird & Wolffe, 1999). The common theme in each of these processes is gene silencing. Therefore, gene silencing is a major biological consequence of DNA methylation. As such, ...
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Hereditary unstable DNA is composed of strings of trinucleotide repeats, in which three nucleotides are repeated over and over (ie CAGCAGCAGCAG). These repeats are found in several sites within genes; depending on their location, the number of triplet repeats in a string can change as it is passed on to offspring. When the number of repeats increases to a critical size, it can have a variety of...
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| The underlying genetic mutations for many inherited neurodegenerative disorders have been identified in recent years. One frequent type of mutation is trinucleotide repeat expansion. Depending on the location of the repeat expansion, the mutation might result in a loss of function of the disease gene, a toxic gain of function or both. Disease gene identification has led to the development of ...
متن کاملTrinucleotide repeat expansion and human disease.
Eleven human loci, responsible for nine diseases, exhibit an unprecedented form of mutation: the expansion of trinucleotide repeats. Normally polymorphic CGG/CCG or CAG/CTG repeats (means of approximately 20 triplets) are found enlarged to either 2-3 or 10-1000 times normal lengths. The smaller expansions are found within genes coding for polyglutamine and are associated with neurodegenerative ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2000
ISSN: 1460-2083
DOI: 10.1093/hmg/9.6.909