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trinucleotide repeat (expansion)
Codes for glutamine-rich region in at least 5 proteins, leucine-rich region in 2 proteins, & serine-rich region in 1 protein. Also found in 5' & 3' untranslated regions. Triplet expansion of CAG in androgen-receptor gene & IT15 (Huntington's) gives rise to expansion of glutamine-rich region & expansion of CAG in myotonin kinase gene within 3' untranslated region are associated with disease.
General
nucleotide repeat (expansion)
References
- Ross CA, McInnis MG, Margolis RL, Li SH.
Genes with triplet repeats: candidate mediators of
neuropsychiatric disorders.
Trends Neurosci. 1993 Jul;16(7):254-60. Review.
PMID: 7689767