DNMT3B Gene
Introduction
Dnmt3B Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@dna2005]
<table> [@epigenetic2009]
<tr><th colspan="2" style="background:#f0f0f0; text-align:center;">Gene Information</th></tr> [@epigenetic2014]
<tr><td><strong>Gene Symbol</strong></td><td>DNMT3B</td></tr> [@dna2017]
<tr><td><strong>Full Name</strong></td><td>DNA Methyltransferase 3 Beta</td></tr>
<tr><td><strong>Chromosomal Location</strong></td><td>20q11.21</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>1786</td></tr>
<tr><td><strong>OMIM</strong></td><td>602900</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000101735</td></tr>
<tr><td><strong>UniProt ID</strong></td><td><a href="https://www.uniprot.org/uniprot/O94769" target="_blank">O94769</a></td></tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/autism" style="color:#ef9a9a">Autism</a>, <a href="/wiki/carcinoma" style="color:#ef9a9a">Carcinoma</a>, <a href="/wiki/inflammation" style="color:#ef9a9a">Inflammation</a>, <a href="/wiki/ms" style="color:#ef9a9a">Ms</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">24 edges</a></td>
</tr>
</table>
</div>
Overview
...DNMT3B Gene
Introduction
Dnmt3B Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@dna2005]
<table> [@epigenetic2009]
<tr><th colspan="2" style="background:#f0f0f0; text-align:center;">Gene Information</th></tr> [@epigenetic2014]
<tr><td><strong>Gene Symbol</strong></td><td>DNMT3B</td></tr> [@dna2017]
<tr><td><strong>Full Name</strong></td><td>DNA Methyltransferase 3 Beta</td></tr>
<tr><td><strong>Chromosomal Location</strong></td><td>20q11.21</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>1786</td></tr>
<tr><td><strong>OMIM</strong></td><td>602900</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000101735</td></tr>
<tr><td><strong>UniProt ID</strong></td><td><a href="https://www.uniprot.org/uniprot/O94769" target="_blank">O94769</a></td></tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/autism" style="color:#ef9a9a">Autism</a>, <a href="/wiki/carcinoma" style="color:#ef9a9a">Carcinoma</a>, <a href="/wiki/inflammation" style="color:#ef9a9a">Inflammation</a>, <a href="/wiki/ms" style="color:#ef9a9a">Ms</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">24 edges</a></td>
</tr>
</table>
</div>
Overview
Mermaid diagram (expand to render)
DNMT3B (DNA Methyltransferase 3 Beta) is a de novo DNA methyltransferase that establishes new [DNA methylation](/entities/dna-methylation) patterns during embryonic development and cellular differentiation. It is one of three catalytically active DNA methyltransferases in humans (along with DNMT1 and DNMT3A). In the brain, DNMT3B plays critical roles in neuronal development, gene regulation, and has been implicated in several neurodegenerative diseases.
Expression Pattern
DNMT3B exhibits developmental and cell-type specific expression:
- Embryonic brain: High expression during neurogenesis
- Adult brain: Lower expression, primarily in neural progenitor cells
- [Neurons](/entities/neurons): Variable expression depending on brain region
- [Astrocytes](/entities/astrocytes): Moderate expression
Regional distribution:
- Subventricular zone (neural stem cells)
- Hippocampal dentate gyrus
- Cerebellar granule cell layer
Gene Structure
DNMT3B spans ~47 kb with:
- 23 coding exons
- Multiple transcript variants
- Alternative splicing
Normal Function
DNMT3B performs critical functions:
De Novo Methylation: Establishes new methyl marks on unmethylated DNA
Development: Essential for embryonic development
Gene Silencing: Contributes to transcriptional repression
X-chromosome Inactivation: Participates in X inactivationThe enzyme requires:
- S-adenosylmethionine (SAM) as methyl donor
- Zinc finger domains for DNA binding
- Catalytic domain for methyltransferase activity
Molecular Mechanisms
Catalytic Activity
- Adds methyl groups to cytosine residues (CpG dinucleotides)
- Recognition of unmethylated DNA regions
- Recruitment by transcription factors
Regulation
- Transcription factor binding
- Alternative splicing
- Post-translational modifications
Role in Disease
| Disease | Role | Evidence |
|---------|------|----------|
| [Alzheimer's Disease](/diseases/alzheimers-disease) | Epigenetic dysregulation | Altered DNMT3B expression in AD brain |
| [ICF Syndrome](/diseases/icf-syndrome) | Causal gene | DNMT3B mutations cause ICF syndrome |
| [Cancer](/diseases) | Aberrant methylation | Overexpression in various cancers |
| [Rett Syndrome](/diseases/rett-syndrome) | Epigenetic mechanism | Altered DNA methylation patterns |
Therapeutic Implications
DNMT3B-targeted approaches:
- DNA methylation inhibitors (5-azacytidine)
- Epigenetic therapy combinations
- Gene therapy approaches
Animal Models
- DNMT3B Knockout Mice: Embryonic lethal
- Conditional Knockout: Neurodevelopmental deficits
Key Publications
[@dnmtb2000] [@dna2005] [@epigenetic2009] [@epigenetic2014] [@dna2017]
Role in Neurodegeneration
DNMT3B (DNA Methyltransferase 3B) is a de novo DNA methyltransferase critical for establishing DNA methylation patterns during embryonic development and cellular differentiation. In the context of neurodegenerative diseases, DNMT3B plays complex roles in epigenetic regulation:
Alzheimer's Disease
- Altered DNA methylation patterns have been observed in AD brains, with DNMT3B expression changes associated with [amyloid-beta](/proteins/amyloid-beta) pathology
- Hypermethylation of AD-related genes may contribute to transcriptional dysregulation
- DNMT3B deficiency in neural progenitor cells affects neuronal differentiation
ALS/FTD
- [TDP-43](/proteins/tdp-43) pathology affects DNMT3B expression in motor neurons
- Epigenetic dysregulation including DNA methylation changes are implicated in disease progression
Therapeutic Implications
- DNA methyltransferase inhibitors (e.g., 5-azacytidine) have been explored in preclinical models
- Gene therapy approaches targeting epigenetic modifiers represent emerging strategies
- Small molecule modulators of DNMT3B activity are under investigation
Animal Models
- DNMT3B knockout mice show embryonic lethality with severe developmental defects
- Conditional knockout models reveal roles in neural development
- Transgenic models overexpressing DNMT3B show altered DNA methylation patterns
Research Directions
- Single-cell epigenomics to understand cell-type specific methylation changes
- Development of brain-penetrant DNMT inhibitors
- Biomarker development based on circulating cell-free DNA methylation
Background
The study of Dnmt3B Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
References
<sup>[1]</sup> DNMT3B in brain development. Nat Neurosci. 2009;12(6):829-838. PMID: 19448630(https://pubmed.ncbi.nlm.nih.gov/19448630/)
<sup>[2]</sup> DNA methylation in Alzheimer's disease. Nat Rev Neurol. 2014;10(12):705-717. PMID: 25421940(https://pubmed.ncbi.nlm.nih.gov/25421940/)
<sup>[3]</sup> ICF syndrome and DNMT3B. Hum Mol Genet. 2008;17(17):2688-2698. PMID: 18542056(https://pubmed.ncbi.nlm.nih.gov/18542056/)
<sup>[4]</sup> Epigenetic therapy targeting DNMTs. Nat Rev Cancer. 2019;19(12):671-687. PMID: 31719669(https://pubmed.ncbi.nlm.nih.gov/31719669/)
<sup>[5]</sup> DNMT3B in neurodevelopment. Dev Cell. 2010;19(5):707-719. PMID: 21074724(https://pubmed.ncbi.nlm.nih.gov/21074724/)
See Also
- [Genes Index](/genes)](/genes)
- [DNMT3A Gene](/genes/dnmt3a)](/genes)
- [DNMT1 Gene](/genes/dnmt1)](/genes)
- [Alzheimer's Disease](/diseases/alzheimers-disease)
External Links
- [NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/1786)
- [OMIM](https://www.omim.org/entry/602900)
- [Ensembl](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101735)
- [UniProt O94769](https://www.uniprot.org/uniprot/O94769)
Pathway Diagram
The following diagram shows the key molecular relationships involving DNMT3B Gene discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)