Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA) - PubMed (original) (raw)
Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)
S Ueno et al. Hum Mol Genet. 1995 Apr.
Abstract
An unstable expansion of CAG repeat in the coding region of the DRPLA gene on chromosome 12p is the mutation specific for hereditary dentatorubral-pallidoluysian atrophy (DRPLA). We studied the CAG expansion in brain and other tissues from six unrelated DRPLA patients. The CAG repeat lengths showed distinct differences between tissues. The sizes of the CAG expansion in various regions of the brain except the cerebellum were generally larger by several repeats than in other peripheral tissues. Brain samples showed greater variation of the expansion compared with other tissues, but neither the size of the CAG expansion nor the degree of CAG repeat variation parallels the detailed findings of neuropathological involvement. We conclude that somatic instabilities of the CAG repeat cause tissue variability of the CAG repeat size in DRPLA but other region or cell type-specific factors would be involved to explain the selectivity of cell damage in DRPLA.
Similar articles
- Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.
Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, et al. Nagafuchi S, et al. Nat Genet. 1994 Jan;6(1):14-8. doi: 10.1038/ng0194-14. Nat Genet. 1994. PMID: 8136826 - Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, et al. Koide R, et al. Nat Genet. 1994 Jan;6(1):9-13. doi: 10.1038/ng0194-9. Nat Genet. 1994. PMID: 8136840 - [Somatic mosaicism of CAG repeats size in the nervous system of dentatorubral-pallidoluysian atrophy (DRPLA)].
Ito Y, Tanaka F, Sobue G. Ito Y, et al. Nihon Rinsho. 1999 Apr;57(4):850-5. Nihon Rinsho. 1999. PMID: 10222778 Review. Japanese. - Dentatorubral-pallidoluysian atrophy (DRPLA). Molecular basis for wide clinical features of DRPLA.
Ikeuchi T, Koide R, Onodera O, Tanaka H, Oyake M, Takano H, Tsuji S. Ikeuchi T, et al. Clin Neurosci. 1995;3(1):23-7. Clin Neurosci. 1995. PMID: 7614090 - Molecular pathology of dentatorubral-pallidoluysian atrophy.
Kanazawa I. Kanazawa I. Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1069-74. doi: 10.1098/rstb.1999.0460. Philos Trans R Soc Lond B Biol Sci. 1999. PMID: 10434307 Free PMC article. Review.
Cited by
- Inhibition of Polyglutamine Misfolding with D-Enantiomeric Peptides Identified by Mirror Image Phage Display Selection.
Kolkwitz PE, Mohrlüder J, Willbold D. Kolkwitz PE, et al. Biomolecules. 2022 Jan 18;12(2):157. doi: 10.3390/biom12020157. Biomolecules. 2022. PMID: 35204656 Free PMC article. - What is the Pathogenic CAG Expansion Length in Huntington's Disease?
Donaldson J, Powell S, Rickards N, Holmans P, Jones L. Donaldson J, et al. J Huntingtons Dis. 2021;10(1):175-202. doi: 10.3233/JHD-200445. J Huntingtons Dis. 2021. PMID: 33579866 Free PMC article. Review. - The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington's Disease: A Historical Perspective.
Monckton DG. Monckton DG. J Huntingtons Dis. 2021;10(1):7-33. doi: 10.3233/JHD-200429. J Huntingtons Dis. 2021. PMID: 33579863 Free PMC article. Review. - Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.
Mouro Pinto R, Arning L, Giordano JV, Razghandi P, Andrew MA, Gillis T, Correia K, Mysore JS, Grote Urtubey DM, Parwez CR, von Hein SM, Clark HB, Nguyen HP, Förster E, Beller A, Jayadaev S, Keene CD, Bird TD, Lucente D, Vonsattel JP, Orr H, Saft C, Petrasch-Parwez E, Wheeler VC. Mouro Pinto R, et al. Hum Mol Genet. 2020 Aug 29;29(15):2551-2567. doi: 10.1093/hmg/ddaa139. Hum Mol Genet. 2020. PMID: 32761094 Free PMC article. - Genomic mosaicism in the developing and adult brain.
Rohrback S, Siddoway B, Liu CS, Chun J. Rohrback S, et al. Dev Neurobiol. 2018 Nov;78(11):1026-1048. doi: 10.1002/dneu.22626. Epub 2018 Aug 1. Dev Neurobiol. 2018. PMID: 30027562 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical