Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

Nature Genetics

Volumn 43, Issue 6, 2011, Pages 595-600

  Klein, Christopher J ^a   Botuyan, Maria Victoria ^b   Wu, Yanhong ^a   Ward, Christopher J ^a   Nicholson, Garth A ^c   Hammans, Simon ^d   Hojo, Kaori ^e   Yamanishi, Hiromitch ^e   Karpf, Adam R ^f   Wallace, Douglas C ^g   Simon, Mariella ^g   Lander, Cecilie ^h   Boardman, Lisa A ^a   Cunningham, Julie M ^a   Smith, Glenn E ^a   Litchy, William J ^a   Boes, Benjamin ⁱ   Atkinson, Elizabeth J ^a   Middha, Sumit ^a   B Dyck, P James ^a   Parisi, Joseph E ^a   Mer, Georges ^b   Smith, David I ^a   Dyck, Peter J ^a   more..

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c UNIVERSITY OF SYDNEY   (Australia)

^d UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^e Harima Institute   (Japan)

^f ROSWELL PARK CANCER INSTITUTE   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

ⁱ Roche Applied Science   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE 1; NUCLEOTIDE; SERINE PALMITOYLTRANSFERASE;

ADULT; ARTICLE; AUTONOMIC NEUROPATHY; CARBOXY TERMINAL SEQUENCE; CELL CYCLE G1 PHASE; CEREBELLAR ATAXIA; CONTROLLED STUDY; CRYSTAL STRUCTURE; DEMENTIA; DNA METHYLATION; ENZYME ACTIVITY; EXOME; FEMALE; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; HAPLOTYPE; HEARING LOSS; HELA CELL; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1; HETEROCHROMATIN; HETEROZYGOTE; HUMAN; HUMAN CELL; HYDROPHOBICITY; IMMUNOHISTOCHEMISTRY; JAPANESE; LIMB WEAKNESS; LINKAGE ANALYSIS; MALE; NERVE DEGENERATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DOMAIN; SENSORY NEUROPATHY; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; DEMENTIA; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; DNA METHYLATION; FEMALE; G2 PHASE; HEARING LOSS; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HETEROCHROMATIN; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION;

EID: 79957623760     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.830     Document Type: Article

References (35)

1. Feng, J. & Fan, G. The role of DNA methylation in the central nervous system and neuropsychiatric disorders. Int. Rev. Neurobiol. 89, 67-84 (2009).
2. Chen, W.G. et al. Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 302, 885-889 (2003). (Pubitemid 37339632)
3. Tohgi, H. et al. Reduction with age in methylcytosine in the promoter region -224 approximately -101 of the amyloid precursor protein gene in autopsy human cortex. Brain Res. Mol. Brain Res. 70, 288-292 (1999). (Pubitemid 29317643)
4. Herrup, K. & Yang, Y. Cell cycle regulation in the postmitotic neuron: oxymoron or new biology? Nat. Rev. Neurosci. 8, 368-378 (2007). (Pubitemid 46652467)
5. Brooks, P.J., Marietta, C. & Goldman, D. DNA mismatch repair and DNA methylation in adult brain neurons. J. Neurosci. 16, 939-945 (1996). (Pubitemid 26140849)
6. Fan, G. et al. DNA hypomethylation perturbs the function and survival of CNS neurons in postnatal animals. J. Neurosci. 21, 788-797 (2001). (Pubitemid 32163120)
7. Wright, A. & Dyck, P.J. Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia. Neurology 45, 560-562 (1995).
8. Hojo, K. et al. Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study. Eur. J. Neurol. 6, 357-361 (1999). (Pubitemid 29250998)
9. Klein, C.J. & Dyck, P. Hereditary sensory and autonomic neuropathies (HSAN): clinical features pathologic classification, and molecular genetics. in Peripheral Neuropathy, Fourth Edition, Vol. 2 (eds. Peter J. Dyck & P.K. Thomas) 1809-1845 (Philadelphia, USA, 2005).
10. Dawkins, J.L., Hulme, D.J., Brahmbhatt, S.B., Auer-Grumbach, M. & Nicholson, G.A. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat. Genet. 27, 309-312 (2001). (Pubitemid 32201853)
11. Rotthier, A. et al. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am. J. Hum. Genet. 87, 513-522 (2010).
12. Guelly, C. et al. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am. J. Hum. Genet. 88, 99-105 (2011).
13. Verhoeven, K. et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am. J. Hum. Genet. 72, 722-727 (2003). (Pubitemid 36255971)
14. Hojo, K., Kawamata, T., Tanaka, C. & Maeda, K. Inflammatory glial activation in the brain of a patient with hereditary sensory neuropathy type 1 with deafness and dementia. Neurosci. Lett. 367, 340-343 (2004). (Pubitemid 39178609)
15. Fatemi, M., Hermann, A., Pradhan, S. & Jeltsch, A. The activity of the murine DNA methyltransferase Dnmt1 is controlled by interaction of the catalytic domain with the N-terminal part of the enzyme leading to an allosteric activation of the enzyme after binding to methylated DNA. J. Mol. Biol. 309, 1189-1199 (2001). (Pubitemid 32623317)
16. Margot, J.B. et al. Structure and function of the mouse DNA methyltransferase gene: Dnmt1 shows a tripartite structure. J. Mol. Biol. 297, 293-300 (2000).
17. Leonhardt, H., Page, A.W., Weier, H.U. & Bestor, T.H. A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. Cell 71, 865-873 (1992).
18. Fellinger, K., Rothbauer, U., Felle, M., Langst, G. & Leonhardt, H. Dimerization of DNA methyltransferase 1 is mediated by its regulatory domain. J. Cell. Biochem. 106, 521-528 (2009).
19. Cardoso, M.C. & Leonhardt, H. DNA methyltransferase is actively retained in the cytoplasm during early development. J. Cell Biol. 147, 25-32 (1999). (Pubitemid 30211793)
20. Easwaran, H.P., Schermelleh, L., Leonhardt, H. & Cardoso, M.C. Replication-independent chromatin loading of Dnmt1 during G2 and M phases. EMBO Rep. 5, 1181-1186 (2004). (Pubitemid 40103614)
21. Spada, F. et al. DNMT1 but not its interaction with the replication machinery is required for maintenance of DNA methylation in human cells. J. Cell Biol. 176, 565-571 (2007). (Pubitemid 46333972)
22. Song, L., James, S.R., Kazim, L. & Karpf, A.R. Specific method for the determination of genomic DNA methylation by liquid chromatography- electrospray ionization tandem mass spectrometry. Anal. Chem. 77, 504-510 (2005). (Pubitemid 40116829)
23. Chen, T. et al. Complete inactivation of DNMT1 leads to mitotic catastrophe in human cancer cells. Nat. Genet. 39, 391-396 (2007). (Pubitemid 46328497)
24. Brown, K.D. & Robertson, K.D. DNMT1 knockout delivers a strong blow to genome stability and cell viability. Nat. Genet. 39, 289-290 (2007). (Pubitemid 46328481)
25. Eden, A., Gaudet, F., Waghmare, A. & Jaenisch, R. Chromosomal instability and tumors promoted by DNA hypomethylation. Science 300, 455 (2003). (Pubitemid 36444319)
26. Jones, P.A. & Baylin, S.B. The fundamental role of epigenetic events in cancer. Nat. Rev. Genet. 3, 415-428 (2002). (Pubitemid 34587077)
27. Nelson, E.D., Kavalali, E.T. & Monteggia, L.M. Activity-dependent suppression of miniature neurotransmission through the regulation of DNA methylation. J. Neurosci. 28, 395-406 (2008).
28. Amir, R.E. et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23, 185-188 (1999). (Pubitemid 29455390)
29. Xu, G.L. et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402, 187-191 (1999).
30. Cao, X. & Sudhof, T.C. A transcriptionally [correction of transcriptively] active complex of APP with Fe65 and histone acetyltransferase Tip60. Science 293, 115-120 (2001). (Pubitemid 32625507)
31. Wijsman, E.M. et al. Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2. Am. J. Hum. Genet. 75, 398-409 (2004). (Pubitemid 39095816)
32. Tawa, R., Ono, T., Kurishita, A., Okada, S. & Hirose, S. Changes of DNA methylation level during pre-and postnatal periods in mice. Differentiation 45, 44-48 (1990). (Pubitemid 20346653)
33. Spada, F., Rothbauer, U., Zolghadr, K., Schermelleh, L. & Leonhardt, H. Regulation of DNA methyltransferase 1. Adv. Enzyme Regul. 46, 224-234 (2006). (Pubitemid 44301362)
34. Golshani, P., Hutnick, L., Schweizer, F. & Fan, G. Conditional Dnmt1 deletion in dorsal forebrain disrupts development of somatosensory barrel cortex and thalamocortical long-term potentiation. Thalamus Relat. Syst. 3, 227-233 (2005). (Pubitemid 46566553)
35. Rampon, C. et al. Enrichment induces structural changes and recovery from nonspatial memory deficits in CA1 NMDAR1-knockout mice. Nat. Neurosci. 3, 238-244 (2000). (Pubitemid 30140785)