Trinucleotide Repeat Expansion

"Trinucleotide Repeat Expansion" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.

Descriptor ID	D019680
MeSH Number(s)	G02.111.570.080.708.800.140.865 G02.111.570.080.708.800.500.850.200 G05.360.080.708.800.074.865 G05.360.080.708.800.500.850.200 G05.360.340.024.189.220.865 G05.360.340.024.850.500.850.200 G05.365.590.220.865 G05.558.220.865
Concept/Terms	Trinucleotide Repeat Expansion Trinucleotide Repeat Expansion Expansion, Trinucleotide Repeat Expansions, Trinucleotide Repeat Repeat Expansion, Trinucleotide Repeat Expansions, Trinucleotide Trinucleotide Repeat Expansions Expanded Trinucleotide Repeat Expanded Trinucleotide Repeats Repeat, Expanded Trinucleotide Repeats, Expanded Trinucleotide Trinucleotide Repeat, Expanded Trinucleotide Repeats, Expanded

Below are MeSH descriptors whose meaning is more general than "Trinucleotide Repeat Expansion".

Biological Sciences [G]
Chemical Phenomena [G02]
Biochemical Phenomena [G02.111]
Molecular Structure [G02.111.570]
Base Sequence [G02.111.570.080]
Repetitive Sequences, Nucleic Acid [G02.111.570.080.708]
Tandem Repeat Sequences [G02.111.570.080.708.800]
DNA Repeat Expansion [G02.111.570.080.708.800.140]
Trinucleotide Repeat Expansion [G02.111.570.080.708.800.140.865]
Microsatellite Repeats [G02.111.570.080.708.800.500]
Trinucleotide Repeats [G02.111.570.080.708.800.500.850]
Trinucleotide Repeat Expansion [G02.111.570.080.708.800.500.850.200]
Genetic Phenomena [G05]
Genetic Structures [G05.360]
Base Sequence [G05.360.080]
Repetitive Sequences, Nucleic Acid [G05.360.080.708]
Tandem Repeat Sequences [G05.360.080.708.800]
DNA Repeat Expansion [G05.360.080.708.800.074]
Trinucleotide Repeat Expansion [G05.360.080.708.800.074.865]
Microsatellite Repeats [G05.360.080.708.800.500]
Trinucleotide Repeats [G05.360.080.708.800.500.850]
Trinucleotide Repeat Expansion [G05.360.080.708.800.500.850.200]
Genome [G05.360.340]
Genome Components [G05.360.340.024]
DNA Sequence, Unstable [G05.360.340.024.189]
DNA Repeat Expansion [G05.360.340.024.189.220]
Trinucleotide Repeat Expansion [G05.360.340.024.189.220.865]
Tandem Repeat Sequences [G05.360.340.024.850]
Microsatellite Repeats [G05.360.340.024.850.500]
Trinucleotide Repeats [G05.360.340.024.850.500.850]
Trinucleotide Repeat Expansion [G05.360.340.024.850.500.850.200]
Genetic Variation [G05.365]
Mutation [G05.365.590]
DNA Repeat Expansion [G05.365.590.220]
Trinucleotide Repeat Expansion [G05.365.590.220.865]
Mutagenesis [G05.558]
DNA Repeat Expansion [G05.558.220]
Trinucleotide Repeat Expansion [G05.558.220.865]

Below are MeSH descriptors whose meaning is related to "Trinucleotide Repeat Expansion".

Below are MeSH descriptors whose meaning is more specific than "Trinucleotide Repeat Expansion".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Trinucleotide Repeat Expansion" by people in this website by year, and whether "Trinucleotide Repeat Expansion" was a major or minor topic of these publications.

Bar chart showing 30 publications over 19 distinct years, with a maximum of 5 publications in 2002

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2001	1	0	1
2002	2	3	5
2003	1	0	1
2004	1	0	1
2005	1	1	2
2006	1	0	1
2007	1	0	1
2008	1	1	2
2009	1	0	1
2010	1	0	1
2011	1	2	3
2012	0	2	2
2013	1	0	1
2014	1	0	1
2015	1	1	2
2016	2	0	2
2018	1	0	1
2023	0	1	1
2025	1	0	1

Below are the most recent publications written about "Trinucleotide Repeat Expansion" by people in Profiles.

Brown RE, Coxon M, Larsen B, Allison M, Chadha A, Mittelstadt I, Mertz TM, Roberts SA, Freudenreich CH. APOBEC3A deaminates CTG hairpin loops to promote fragility and instability of expanded CAG/CTG repeats. Proc Natl Acad Sci U S A. 2025 Jan 14; 122(2):e2408179122.

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Phadte AS, Bhatia M, Ebert H, Abdullah H, Elrazaq EA, Komolov KE, Pluciennik A. FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism. Proc Natl Acad Sci U S A. 2023 08 15; 120(33):e2302103120.

View in: PubMed
LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA, Mefford HC, Sol-Church K. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. Am J Hum Genet. 2019 01 03; 104(1):35-44.

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Isaacs CJ, Brigatti KW, Kucheruk O, Ratcliffe S, Sciascia T, McCormack SE, Willi SM, Lynch DR. Effects of genetic severity on glucose homeostasis in Friedreich ataxia. Muscle Nerve. 2016 11; 54(5):887-894.

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Haeusler AR, Donnelly CJ, Rothstein JD. The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease. Nat Rev Neurosci. 2016 06; 17(6):383-95.

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Rusmini P, Crippa V, Cristofani R, Rinaldi C, Cicardi ME, Galbiati M, Carra S, Malik B, Greensmith L, Poletti A. The Role of the Protein Quality Control System in SBMA. J Mol Neurosci. 2016 Mar; 58(3):348-64.

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Iyer RR, Pluciennik A, Napierala M, Wells RD. DNA triplet repeat expansion and mismatch repair. Annu Rev Biochem. 2015; 84:199-226.

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Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Sch?ls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014 Sep; 137(Pt 9):2444-55.

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Kelp A, Koeppen AH, Petrasch-Parwez E, Calaminus C, Bauer C, Portal E, Yu-Taeger L, Pichler B, Bauer P, Riess O, Nguyen HP. A novel transgenic rat model for spinocerebellar ataxia type 17 recapitulates neuropathological changes and supplies in vivo imaging biomarkers. J Neurosci. 2013 May 22; 33(21):9068-81.

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Brigatti KW, Deutsch EC, Lynch DR, Farmer JM. Novel diagnostic paradigms for Friedreich ataxia. J Child Neurol. 2012 Sep; 27(9):1146-51.

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