Article
DNMT1 Y495C mutation interferes with maintenance methylation of imprinting control regions.
The international journal of biochemistry & cell biology - 1 Apr 2024
Choudhury Sumana, Anne Anuhya, Singh Minali, Chaillet John Richard, Mohan Kommu Naga
Abstract excerpt
Hereditary Sensory and Autonomic Neuropathy Type 1E (HSAN1E) is a rare autosomal dominant neurological disorder due to missense mutations in DNA methyltransferase 1 (DNMT1). To investigate the nature of the dominant effect, we compared methylomes of transgenic R1wtDnmt1 and R1Dnmt1Y495C mouse embryonic stem cells (mESCs) overexpressing WT and the mutant mouse proteins respectively, with the R1 (wild-type) cells....
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