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Article

DNMT1 mutations found in HSANIE patients affect interaction with UHRF1 and neuronal differentiation.

Human molecular genetics - 15 Apr 2017

Smets Martha, Link Stephanie, Wolf Patricia, Schneider Katrin, Solis Veronica, Ryan Joel, Meilinger Daniela, Qin Weihua, Leonhardt Heinrich

Abstract excerpt

DNMT1 is recruited to substrate sites by PCNA and UHRF1 to maintain DNA methylation after replication. The cell cycle dependent recruitment of DNMT1 is mediated by the PCNA-binding domain (PBD) and the targeting sequence (TS) within the N-terminal regulatory domain. The TS domain was found to be mutated in patients suffering from hereditary sensory and autonomic neuropathies with dementia and hearing loss...

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Topics

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Share to CCAAT-Enhancer-Binding Proteins
Share to DNA (Cytosine-5-)-Methyltransferase 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA (Cytosine-5-)-Methyltransferases

Share to Hereditary Sensory and Autonomic Neuropathies

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Share to Mouse Embryonic Stem Cells

Share to Protein Interaction Domains and Motifs

Share to Protein Stability

Source

Open in PubMed Open full text

Identifiers

PMID: 28334952
DOI: 10.1093/hmg/ddx057
PMCID: PMC5393148

Genes

DNMT1
UHRF1
PCNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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DNMT1 mutations found in HSANIE patients affect interaction with UHRF1 and neuronal differentiation.PMID 28334952Read ↗

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DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.Semantic proximity Read ↗

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