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 22 publications over 14 distinct years, with a maximum of 3 publications in 2017 and 2018

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

Year	Major Topic	Minor Topic	Total
2001	0	1	1
2002	0	1	1
2007	0	1	1
2010	0	1	1
2011	0	2	2
2012	0	1	1
2013	0	2	2
2014	1	0	1
2017	1	2	3
2018	1	2	3
2021	1	0	1
2023	1	1	2
2024	0	1	1
2025	2	0	2

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

Mathews EW, Coffey SR, G?rtner A, Belgrad J, Bragg RM, O'Reilly D, Cantle JP, McHugh C, Summers A, Fentz J, Schwagarus T, Cornelius A, Lingos I, Burch Z, Kovalenko M, Andrew MA, Bennett CF, Kordasiewicz HB, Marchionini DM, Wilkinson H, Vogt TF, Beuzer P, Pinto RM, Khvorova A, Howland D, Wheeler VC, Carroll JB. Suppression of Huntington's Disease Somatic Instability by Transcriptional Repression and Direct CAG Repeat Binding. Nat Commun. 2025 Nov 14; 16(1):10009.

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Jung S, Richter JD. Trinucleotide repeat expansion and RNA dysregulation in fragile X syndrome: emerging therapeutic approaches. RNA. 2025 02 19; 31(3):307-313.

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Belgrad J, Khvorova A. More than 185 CAG repeats: a point of no return in Huntington's disease biology. Brain. 2024 05 03; 147(5):1601-1603.

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Shah S, Sharp KJ, Raju Ponny S, Lee J, Watts JK, Berry-Kravis E, Richter JD. Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP. Proc Natl Acad Sci U S A. 2023 07 04; 120(27):e2302534120.

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O'Reilly D, Belgrad J, Ferguson C, Summers A, Sapp E, McHugh C, Mathews E, Boudi A, Buchwald J, Ly S, Moreno D, Furgal R, Luu E, Kennedy Z, Hariharan V, Monopoli K, Yang XW, Carroll J, DiFiglia M, Aronin N, Khvorova A. Di-valent siRNA-mediated silencing of MSH3 blocks somatic repeat expansion in mouse models of Huntington's disease. Mol Ther. 2023 06 07; 31(6):1661-1674.

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Richter JD, Zhao X. The molecular biology of FMRP: new insights into fragile X syndrome. Nat Rev Neurosci. 2021 04; 22(4):209-222.

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Didiot MC, Ferguson CM, Ly S, Coles AH, Smith AO, Bicknell AA, Hall LM, Sapp E, Echeverria D, Pai AA, DiFiglia M, Moore MJ, Hayward LJ, Aronin N, Khvorova A. Nuclear Localization of Huntingtin mRNA Is Specific to Cells of Neuronal Origin. Cell Rep. 2018 09 04; 24(10):2553-2560.e5.

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Hu J, Rong Z, Gong X, Zhou Z, Sharma VK, Xing C, Watts JK, Corey DR, Mootha VV. Oligonucleotides targeting TCF4 triplet repeat expansion inhibit RNA foci and mis-splicing in Fuchs' dystrophy. Hum Mol Genet. 2018 03 15; 27(6):1015-1026.

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Li L, Shen X, Liu Z, Norrbom M, Prakash TP, O'Reilly D, Sharma VK, Damha MJ, Watts JK, Rigo F, Corey DR. Activation of Frataxin Protein Expression by Antisense Oligonucleotides Targeting the Mutant Expanded Repeat. Nucleic Acid Ther. 2018 02; 28(1):23-33.

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Gao FB, Richter JD, Cleveland DW. Rethinking Unconventional Translation in Neurodegeneration. Cell. 2017 Nov 16; 171(5):994-1000.

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