trinucleotide repeat (expansion)

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Introduction

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.

More general terms

References

  1. 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: https://www.ncbi.nlm.nih.gov/pubmed/7689767