Trinucleotide Repeat Expansions: Disorders


Trinucleotide repeat mutations, also known as dynamic mutations, were discovered only in the early 1990s, but are responsible for many important neurological disorders, such as Huntington disease, fragile X mental retardation and myotonic dystrophy.

Keywords: triplet repeat; dynamic mutation; polyglutamine; Huntington disease; protein aggregate; spinocerebellar ataxia

Further Reading

Abel A, Walcott J, Woods J, Duda J and Merry DE (2001) Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice. Human Molecular Genetics 10(2): 107–116.

Chan HY and Bonini NM (2000) Drosophila models of human neurodegenerative disease. Cell Death and Differentiation 11: 1075–1080.

Cummings CJ and Zoghbi HY (2000) Trinucleotide repeats: mechanisms and pathophysiology. Annual Review of Genomics and Human Genetics 1: 281–328.

Cummings CJ and Zoghbi HY (2000) Trinucleotide repeats: mechanisms and pathophysiology. Annual Review of Genomics and Human Genetics 1: 281–328.

Fernandez‐Funez P, Nino‐Rosales ML, de Gouyon B, et al. (2000) Identification of genes that modify ataxin‐1‐induced neurodegeneration. Nature 408(6808): 101–106.

Gecz J (2000) The FMR2 gene, FRAXE and non‐specific X‐linked mental retardation: clinical and molecular aspects. Annals of Human Genetics 64(2): 95–106.

Groenen P and Wieringa B (1998) Expanding complexity in myotonic dystrophy. BioEssays 20(11): 901–912.

Gusella JF and MacDonald ME (2000) Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nature Reviews Neuroscience 1(2): 109–115.

Jin P and Warren ST (2000). Understanding the molecular basis of fragile X syndrome. Human Molecular Genetics 9(6): 901–908.

McCampbell A, Taylor JP, Taye AA, et al. (2000) CREB‐binding protein sequestration by expanded polyglutamine. Human Molecular Genetics 9(14): 2197–2202.

Osborne LR (2000) Polyglutamine stretches suppress transcription. Molecular Medicine Today 6(12): 457–458.

Puccio H and Koenig M (2000). Recent advances in the molecular pathogenesis of Friedreich ataxia. Human Molecular Genetics 9(6): 887–892.

Wells RD and Warren ST (eds.) (1998) Genetic Instabilities and Hereditary Neurological Diseases. San Diego, CA: Academic Press.

Web Links

Androgen receptor (AR); LocusID: 367. LocusLink

Fragile X mental retardation 1 (FMR1); LocusID: 2332. LocusLink

Friedriech ataxia (FRDA); LocusID: 2395. LocusLink

Machado–Joseph disease (MJD); LocusID: 4287. LocusLink

Spinocerebellar ataxia 1 (SCA1); LocusID: 6310. LocusLink

Androgen receptor (AR); MIM number: 313700. OMIM‐post/Omim/dispmim?313700

Fragile X mental retardation 1 (FMR1); MIM number: 309550. OMIM‐post/Omim/dispmim?309550

Friedriech ataxia (FRDA); MIM number: 606829. OMIM‐post/Omim/dispmim?606829

Machado–Joseph disease (MJD); MIM number: 607047. OMIM‐post/Omim/dispmim?607047

Spinocerebellar ataxia 1 (SCA1); MIM number: 601556. OMIM‐post/Omim/dispmim?601556

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How to Cite close
Nelson, David, and Zoghbi, Huda(Jan 2006) Trinucleotide Repeat Expansions: Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005528]