Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

Brain

Volumn 138, Issue 4, 2015, Pages 845-861

  Baets, Jonathan ^a,b,c   Duan, Xiaohui ^d,e   Wu, Yanhong ^d   Smith, Gordon ^f   Seeley, William W ^g   Mademan, Inès ^a,b   McGrath, Nicole M ^h   Beadell, Noah C ⁱ   Khoury, Julie ⁱ   Botuyan, Maria Victoria ^j   Mer, Georges ^j   Worrell, Gregory A ^d   Hojo, Kaori ^k   DeLeon, Jessica ^l   Laura, Matilde ^m   Liu, Yo Tsen ^m,n,o   Senderek, Jan ^p   Weis, Joachim ^q   Van Den Bergh, Peter ^r   Merrill, Shana L ^s   Reilly, Mary M ^m   Houlden, Henry ^m   Grossman, Murray ^s   Scherer, Steven S ^s   De Jonghe, Peter ^a,b,c   Dyck, Peter J ^d   Klein, Christopher J ^d   more..

^a UNIVERSITY OF ANTWERP   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d MAYO CLINIC   (United States)

^e CHINA JAPAN FRIENDSHIP HOSPITAL   (China)

^f UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^g San Franciso State University   (United States)

^h Northland District Health Board   (New Zealand)

ⁱ OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^j MAYO GRADUATE SCHOOL   (United States)

^k Division of Neuropsychiatry   (Japan)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

ⁿ TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^o NATIONAL YANG MING UNIVERSITY   (Taiwan)

^p LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^q UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^r CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^s UNIVERSITY OF PENNSYLVANIA   (United States)

more..

Author keywords

narcolepsy; neurodegeneration; protein aggregation; REM sleep behaviour disorder; sensory neuropathy

Indexed keywords

DNA METHYLTRANSFERASE 1; DNA (CYTOSINE 5) METHYLTRANSFERASE; DNA (CYTOSINE-5-)-METHYLTRANSFERASE 1;

ADULT; AGED; AGGRESOME; ARTICLE; AUDITORY HALLUCINATION; AUTONOMIC NEUROPATHY; AUTOSOMAL DOMINANT DISORDER; BINDING AFFINITY; BIOPSY; BRAIN ATROPHY; CELLULAR DISTRIBUTION; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CYTOSOL; DISEASE COURSE; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; FEMALE; G2 PHASE CELL CYCLE CHECKPOINT; GENE MUTATION; GENETIC ANALYSIS; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROCHROMATIN; HUMAN; HUMAN TISSUE; HYPERSOMNIA; KIDNEY FAILURE; MALE; MYOCLONUS SEIZURE; NARCOLEPSY; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN HOMEOSTASIS; REM SLEEP DEPRIVATION; SEQUENCE ANALYSIS; SURAL NERVE; VISUAL HALLUCINATION; AUTOPHAGY; CASE REPORT; CHEMISTRY; GENETICS; HEK293 CELL LINE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; MIDDLE AGED; MUTATION; NERVOUS SYSTEM DISEASES; PEDIGREE; PROTEIN SECONDARY STRUCTURE;

ADULT; AGED; AUTOPHAGY; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; FEMALE; HEK293 CELLS; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MALE; MIDDLE AGED; MUTATION; NERVOUS SYSTEM DISEASES; PEDIGREE; PROTEIN STRUCTURE, SECONDARY;

EID: 84929094485     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv010     Document Type: Article

References (32)

1. Choi AM, Ryter SW, Levine B. Autophagy in human health and disease. N Engl J Med 2013; 368: 1845-6.
2. Davidson G, Murphy S, Polke J, Laura M, Salih M, Muntoni F, et al. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. J Neurol 2012; 259: 1673-85.
3. Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 2010; 327: 78-81.
4. Easwaran HP, Schermelleh L, Leonhardt H, Cardoso MC. Replication-independent chromatin loading of Dnmt1 during G2 and M phases. EMBO Rep 2004; 5: 1181-6.
5. Frauer C, Leonhardt H. Twists and turns of DNA methylation. Proc Natl Acad Sci USA 2011; 108: 8919-20.
6. Jin B, Robertson KD. DNA methyltransferases, DNA damage repair, and cancer. Adv Exp Med Biol 2013; 754: 3-29.
7. Klein CJ, Benarroch EE. Epigenetic regulation: basic concepts and relevance to neurologic disease. Neurology 2014; 82: 1833-40.
8. Klein CJ, Bird T, Ertekin-Taner N, Lincoln S, Hjorth R, Wu Y, et al. DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology 2013; 80: 824-8.
9. Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, et al. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet 2011; 43: 595-600.
10. Klein CJ, Duan X, Shy ME. Inherited neuropathies: clinical overview and update. Muscle Nerve 2013; 48: 604-22.
11. Klein CJ, Wu Y, Kruckeberg KE, Hebbring SJ, Anderson SA, Cunningham JM, et al. SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies. J Neurol Neurosurg Psychiatry 2005; 76: 1022-4.
12. Knaevelsrud H, Simonsen A. Fighting disease by selective autophagy of aggregate-prone proteins. FEBS Lett 2010; 584: 2635-45.
13. Leonhardt H, Page AW, Weier HU, Bestor TH. A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. Cell 1992; 71: 865-73.
14. Levine B, Kroemer G. Autophagy in the pathogenesis of disease. Cell 2008; 132: 27-42.
15. Margot JB, Aguirre-Arteta AM, Di Giacco BV, Pradhan S, Roberts RJ, Cardoso MC, et al. Structure and function of the mouse DNA methyltransferase gene: Dnmt1 shows a tripartite structure. J Mol Biol 2000; 297: 293-300.
16. Marques SC, Oliveira CR, Pereira CM, Outeiro TF. Epigenetics in neurodegeneration: a new layer of complexity. Prog Neuropsychopharmacol Biol Psychiatry 2011; 35: 348-55.
17. Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, et al. Narcolepsy is a common phenotype in HSAN IE and ADCA-DN. Brain 2014; 137(Pt 6): 1643-55.
18. Pedroso JL, Povoas Barsottini OG, Lin L, Melberg A, Oliveira AS, Mignot E. A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient. Sleep 2013; 36: 1257-9, 9A.
19. Ross CA, Poirier MA. Protein aggregation and neurodegenerative disease. Nat Med 2004; 10(Suppl): S10-7.
20. Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol 2013; 9: 562-71.
21. Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Levy N, et al. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain 2009; 132(Pt 10): 2699-711.
22. Rotthier A, Baets J, Timmerman V, Janssens K. Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol 2012; 8: 73-85.
23. Saifi GM, Szigeti K, Snipes GJ, Garcia CA, Lupski JR. Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. J Investig Med 2003; 51: 261-83.
24. Schermelleh L, Haemmer A, Spada F, Rosing N, Meilinger D, Rothbauer U, et al. Dynamics of Dnmt1 interaction with the replication machinery and its role in postreplicative maintenance of DNA methylation. Nucleic Acids Res 2007; 35: 4301-12.
25. Song J, Rechkoblit O, Bestor TH, Patel DJ. Structure of DNMT1-DNA complex reveals a role for autoinhibition in maintenance DNA methylation. Science 2011; 331: 1036-40.
26. Spada F, Haemmer A, Kuch D, Rothbauer U, Schermelleh L, Kremmer E, et al. DNMT1 but not its interaction with the replication machinery is required for maintenance of DNA methylation in human cells. J Cell Biol 2007; 176: 565-71.
27. Sun Z, Wu Y, Ordog T, Baheti S, Nie J, Duan X, et al. Aberrant Signature Methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E. Epigenetics 2014; 9: 1184-93.
28. Takalo M, Salminen A, Soininen H, Hiltunen M, Haapasalo A. Protein aggregation and degradation mechanisms in neurodegenera-tive diseases. Am J Neurodegener Dis 2013; 2: 1-14.
29. Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, et al. Mutations in DNMT1 cause autosomal dominant cerebel-lar ataxia, deafness and narcolepsy. Hum Mol Genet 2012; 21: 2205-10.
30. Yamamoto A, Simonsen A. The elimination of accumulated and aggregated proteins: a role for aggrephagy in neurodegeneration. Neurobiol Dis 2011; 43: 17-28.
31. Yuan J, Higuchi Y, Nagado T, Nozuma S, Nakamura T, Matsuura E, et al. Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE. J Peripher Nerv Syst 2013; 18: 89-93.
32. Zimon M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet 2012; 44: 1080-3.