The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
Open accessAbstract
DNA methyltransferase 1 (DNMT1) is crucial for maintenance of methylation, gene regulation and chromatin stability. DNA mismatch repair, cell cycle regulation in post-mitotic neurons and neurogenesis are influenced by DNA methylation. Here we show that mutations in DNMT1 cause both central and peripheral neurodegeneration in one form of hereditary sensory and autonomic neuropathy with dementia and hearing loss. Exome sequencing led to the identification of DNMT1 mutation c.1484A>G (p.Tyr495Cys) in two American kindreds and one Japanese kindred and a triple nucleotide change, c.1470–1472TCC>ATA (p.Asp490Glu–Pro491Tyr), in one European kindred. All mutations are within the targeting-sequence domain of DNMT1. These mutations cause premature degradation of mutant proteins, reduced methyltransferase activity and impaired heterochromatin binding during the G2 cell cycle phase leading to global hypomethylation and site-specific hypermethylation. Our study shows that DNMT1 mutations cause the aberrant methylation implicated in complex pathogenesis. The discovered DNMT1 mutations provide a new framework for the study of neurodegenerative diseases.
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Cites
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“and is involved in neuronal differentiation, migration and central neural connectio”
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Cited by
DNA methylation and its basic function
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DNA Methylation Clocks in Aging: Categories, Causes, and Consequences
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The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape
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Targeted disruption of DNMT1, DNMT3A and DNMT3B in human embryonic stem cells
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Metadata
- Authors
- Klein, C. J., Botuyan, M.-V., Wu, Y., Ward, C. J., Nicholson, G. A., Hammans, S., Hojo, K., Yamanishi, H., Karpf, A. R., Wallace, D. C., Simon, M., Lander, C., Boardman, L. A., Cunningham, J. M., Smith, G. E., Litchy, W. J., Boes, B., Atkinson, E. J., Middha, S., B Dyck, P. J., Parisi, J. E., Mer, G., Smith, D. I., & Dyck, P. J.
- Venue
- Nature Genetics
- Published
- 2011-05-01
- Volume
- 43
- Issue
- 6
- Pages
- 595-600
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2047573503
- Cited by
- 405
- References
- 32
- FWCI
- 14.41
- Type
- journal article
- Language
- en
- Open access
- green
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- Klein, C. J., Botuyan, M.-V., Wu, Y., Ward, C. J., Nicholson, G. A., Hammans, S., Hojo, K., Yamanishi, H., Karpf, A. R., Wallace, D. C., Simon, M., Lander, C., Boardman, L. A., Cunningham, J. M., Smith, G. E., Litchy, W. J., Boes, B., Atkinson, E. J., Middha, S., . . . Dyck, P. J. (2011). Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nature Genetics. https://doi.org/10.1038/ng.830
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
