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Genetics Home Reference: your guide to understanding genetic conditions
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DNMT1

Reviewed November 2012

What is the official name of the DNMT1 gene?

The official name of this gene is “DNA (cytosine-5-)-methyltransferase 1.”

DNMT1 is the gene's official symbol. The DNMT1 gene is also known by other names, listed below.

What is the normal function of the DNMT1 gene?

The DNMT1 gene provides instructions for making an enzyme called DNA (cytosine-5)-methyltransferase 1. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms (methylation), to DNA molecules. In particular, the enzyme helps add methyl groups to DNA building blocks (nucleotides) called cytosines.

DNA methylation is important in many cellular functions. These include determining whether the instructions in a particular segment of DNA are carried out or suppressed (gene silencing), regulating reactions involving proteins and fats (lipids), and controlling the processing of chemicals that relay signals in the nervous system (neurotransmitters). DNA (cytosine-5)-methyltransferase 1 is active in the adult nervous system. Although its specific function is not well understood, the enzyme may help regulate nerve cell (neuron) maturation and specialization (differentiation), the ability of neurons to migrate where needed and connect with each other, and neuron survival.

How are changes in the DNMT1 gene related to health conditions?

hereditary sensory and autonomic neuropathy type IE - caused by mutations in the DNMT1 gene

At least three DNMT1 gene mutations have been identified in people with hereditary sensory and autonomic neuropathy (HSAN IE), a disorder characterized by a gradual loss of intellectual functions (dementia), deafness, and sensory problems in the feet. The mutations, which are in a region of the gene called exon 20, reduce or eliminate the DNA (cytosine-5)-methyltransferase 1 enzyme's methylation function. As a result, maintenance of the neurons that make up the nervous system is impaired. However, it is not known how the mutations cause the specific signs and symptoms of HSAN IE.

cancers - associated with the DNMT1 gene

Several normal variations (polymorphisms) in the DNMT1 gene have been associated with an increased risk of cancer, including cancers of the breast and stomach. These variations, which can be passed on from parent to child, may affect the activity of the DNA (cytosine-5)-methyltransferase 1 enzyme and the way it regulates other genes. Changes in the regulation of these genes can lead to abnormal cell growth and division and increase the risk of cancer.

In addition, increased activity (overexpression) of the DNMT1 gene has been identified in certain brain cancers called gliomas. The genetic changes involved in this overexpression are somatic, which means that they occur only in the tumor cells and are not inherited. Researchers suggest that overexpression of the DNMT1 gene may result in methylation and silencing of genes called tumor suppressors. When tumor suppressor genes are silenced, cells can grow and divide unchecked, which can lead to cancer.

other disorders - caused by mutations in the DNMT1 gene

At least three DNMT1 gene mutations have been identified in people with another nervous system disorder called autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Features of this disorder include difficulty coordinating movements (ataxia), hearing loss, and excessive daytime sleepiness (narcolepsy). The mutations associated with this disorder are in a region of the DNMT1 gene known as exon 21, distinct from the mutations that cause HSAN IE (described above) which are in exon 20. Mutations in different locations within the gene may affect the DNA (cytosine-5)-methyltransferase 1 enzyme differently, which can lead to particular combinations of signs and symptoms.

Where is the DNMT1 gene located?

Cytogenetic Location: 19p13.2

Molecular Location on chromosome 19: base pairs 10,133,344 to 10,195,078

The DNMT1 gene is located on the short (p) arm of chromosome 19 at position 13.2.

The DNMT1 gene is located on the short (p) arm of chromosome 19 at position 13.2.

More precisely, the DNMT1 gene is located from base pair 10,133,344 to base pair 10,195,078 on chromosome 19.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about DNMT1?

You and your healthcare professional may find the following resources about DNMT1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DNMT1 gene or gene products?

  • AIM
  • CXXC9
  • CXXC finger protein 9
  • CXXC-type zinc finger protein 9
  • DNA (cytosine-5)-methyltransferase 1
  • DNA methyltransferase 1
  • DNA methyltransferase HsaI
  • DNA MTase HsaI
  • DNMT
  • DNMT1_HUMAN
  • HSN1E
  • MCMT
  • m.HsaI

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding DNMT1?

ataxia ; atom ; autosomal ; autosomal dominant ; cancer ; cell ; cytosine ; dementia ; differentiation ; DNA ; enzyme ; exon ; gene ; gene silencing ; hereditary ; inherited ; methyl ; methylation ; methyltransferase ; nerve cell ; nervous system ; neuron ; neuropathy ; neurotransmitters ; protein ; stomach ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Ghannad M. DNMT1 links aberrant DNA methylation to hereditary sensory neuropathy. Clin Genet. 2011 Sep;80(3):240-1. doi: 10.1111/j.1399-0004.2011.01752.x. (http://www.ncbi.nlm.nih.gov/pubmed/21762444?dopt=Abstract)
  • Kar S, Deb M, Sengupta D, Shilpi A, Parbin S, Torrisani J, Pradhan S, Patra S. An insight into the various regulatory mechanisms modulating human DNA methyltransferase 1 stability and function. Epigenetics. 2012 Sep;7(9):994-1007. Epub 2012 Aug 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22894906?dopt=Abstract)
  • Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet. 2011 Jun;43(6):595-600. doi: 10.1038/ng.830. Epub 2011 May 1. (http://www.ncbi.nlm.nih.gov/pubmed/21532572?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1786)
  • OMIM: DNA METHYLTRANSFERASE 1 (http://omim.org/entry/126375)
  • Rajendran G, Shanmuganandam K, Bendre A, Muzumdar D, Goel A, Shiras A. Epigenetic regulation of DNA methyltransferases: DNMT1 and DNMT3B in gliomas. J Neurooncol. 2011 Sep;104(2):483-94. doi: 10.1007/s11060-010-0520-2. Epub 2011 Jan 13. Erratum in: J Neurooncol. 2011 Sep;104(2):495. Mujumdar, Dattatreya [corrected to Muzumdar, Dattatraya]. (http://www.ncbi.nlm.nih.gov/pubmed/21229291?dopt=Abstract)
  • Sun MY, Yang XX, Xu WW, Yao GY, Pan HZ, Li M. Association of DNMT1 and DNMT3B polymorphisms with breast cancer risk in Han Chinese women from South China. Genet Mol Res. 2012 Dec 17;11(4):4330-41. doi: 10.4238/2012.September.26.1. (http://www.ncbi.nlm.nih.gov/pubmed/23079992?dopt=Abstract)
  • Svedružić ŽM. Dnmt1 structure and function. Prog Mol Biol Transl Sci. 2011;101:221-54. doi: 10.1016/B978-0-12-387685-0.00006-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21507353?dopt=Abstract)
  • Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, Melberg A, Cornelio F, Urban AE, Pizza F, Poli F, Grubert F, Wieland T, Graf E, Hallmayer J, Strom TM, Mignot E. Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet. 2012 May 15;21(10):2205-10. doi: 10.1093/hmg/dds035. Epub 2012 Feb 9. (http://www.ncbi.nlm.nih.gov/pubmed/22328086?dopt=Abstract)
  • Yang XX, He XQ, Li FX, Wu YS, Gao Y, Li M. Risk-association of DNA methyltransferases polymorphisms with gastric cancer in the southern chinese population. Int J Mol Sci. 2012;13(7):8364-78. doi: 10.3390/ijms13078364. Epub 2012 Jul 5. (http://www.ncbi.nlm.nih.gov/pubmed/22942708?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2012
Published: August 18, 2014