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Cited by 405

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 access
Klein, Christopher J, Botuyan, Maria-Victoria, Wu, Yanhong, Ward, Christopher J, Nicholson, Garth A, Hammans, Simon, Hojo, Kaori, Yamanishi, Hiromitch, Karpf, Adam R, Wallace, Douglas C, Simon, Mariella, Lander, Cecilie, Boardman, Lisa A, Cunningham, Julie M, Smith, Glenn E, Litchy, William J, Boes, Benjamin, Atkinson, Elizabeth J, Middha, Sumit, B Dyck, P James, Parisi, Joseph E, Mer, Georges, Smith, David I, Dyck, Peter J·2011·Nature Genetics
DOI 10.1038/ng.830
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Abstract

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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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
Publisher
Springer Science and Business Media LLC
Published
2011-05-01
Volume
43
Issue
6
Pages
595-600
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.830
OpenAlex
W2047573503
Cited by
405
References
32
FWCI
14.41
Type
journal article
Language
en
Open access
green

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