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FLASH GENE

Symbol

DNMT1

contributors: shn/mct - updated : 22-12-2016

HGNC name	DNA (cytosine-5-)-methyltransferase 1
HGNC id	2976

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HSANDHL , ADCADN

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in telencephalic GABAergic interneurons of schizophrenia brain tumoral       gain of function in leukemia constitutional     --low   by specific hypermethylation in placenta, and promoter methylation attenuates transcriptional activity in trophoblast cells tumoral     --low   responsible for induction of DDX53 drug-resistant cancer cells constitutional         affect the DNA damage response (DDR) in the cell constitutional     --over   by hypomethylation involved in other autoimmune diseases such as lupus

Susceptibility

to autoimmune disease

Variant & Polymorphism SNP	increasing the risk of autoimmune disease

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     development of novel combination therapies that will exploit DNMT1 role not only as a maintenance methyltransferase, but also as a modulator of the DNA damage response, to more efficiently target tumor cells for destruction

ANIMAL & CELL MODELS

	Dnmt1 mutant mice with 90% of hypomethylated cortical and hippocampal cells in the dorsal forebrain from E13.5 on are viable but display severe neuronal cell death between E14.5
	conditional mutant mice lacking Dnmt1 and Dnmt3 in forebrain excitatory neurons have abnormal long-term plasticity in the hippocampal CA1 region with deficits in learning and memory