DCLRE1C Gene

DCLRE1C Gene

Introduction

Dclre1C 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.

--- [@caldecott2008]
title: DCLRE1C Gene [@mckinnon2009]

--- [@kennedy2010]

<div class="infobox infobox-gene"> [@madabhushi2014]

| | |
|---|---|
| Gene Symbol | DCLRE1C |
| Full Name | DNA Cross-Link Repair 1C (Artemis) |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | [64421](https://www.ncbi.nlm.nih.gov/gene/64421) |
| Ensembl ID | [ENSG00000152457](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000152457) |
| OMIM ID | 605988 |
| UniProt ID | [Q9Y5T5](https://www.uniprot.org/uniprotkb/Q9Y5T5/entry) |

</div>

Overview

DCLRE1C (Artemis) is an endonuclease that opens hairpin coding ends during V(D)J recombination and processes DNA double-strand breaks. Mutations cause severe combined immunodeficiency (SCID) with radiosensitivity. Artemis has additional roles in non-homologous end joining and telomere maintenance.

Normal Function

The DCLRE1C gene encodes DNA Cross-Link Repair 1C (Artemis), involved in DNA repair and genomic stability:

• DNA repair: Critical for maintaining genomic integrity
• Cell cycle regulation: Coordinates DNA repair with cell cycle progression
• [Apoptosis](/entities/apoptosis): Modulates apoptotic response to DNA damage
• Neuronal survival: Essential for long-term neuronal survival

Expression Pattern

DCLRE1C Gene

Introduction

Dclre1C 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.

--- [@caldecott2008]
title: DCLRE1C Gene [@mckinnon2009]

--- [@kennedy2010]

<div class="infobox infobox-gene"> [@madabhushi2014]

| | |
|---|---|
| Gene Symbol | DCLRE1C |
| Full Name | DNA Cross-Link Repair 1C (Artemis) |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | [64421](https://www.ncbi.nlm.nih.gov/gene/64421) |
| Ensembl ID | [ENSG00000152457](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000152457) |
| OMIM ID | 605988 |
| UniProt ID | [Q9Y5T5](https://www.uniprot.org/uniprotkb/Q9Y5T5/entry) |

</div>

Overview

DCLRE1C (Artemis) is an endonuclease that opens hairpin coding ends during V(D)J recombination and processes DNA double-strand breaks. Mutations cause severe combined immunodeficiency (SCID) with radiosensitivity. Artemis has additional roles in non-homologous end joining and telomere maintenance.

Normal Function

The DCLRE1C gene encodes DNA Cross-Link Repair 1C (Artemis), involved in DNA repair and genomic stability:

• DNA repair: Critical for maintaining genomic integrity
• Cell cycle regulation: Coordinates DNA repair with cell cycle progression
• [Apoptosis](/entities/apoptosis): Modulates apoptotic response to DNA damage
• Neuronal survival: Essential for long-term neuronal survival

Expression Pattern

DCLRE1C is expressed in:

• [Hippocampus](/brain-regions/hippocampus)
• Cerebral [cortex](/brain-regions/cortex)
• Lymphocytes
• Ubiquitous

Disease Associations

DCLRE1C is implicated in:

| Disease | Association Type | Evidence |
|---------|------------------|----------|
| Alzheimer's Disease | Genetic/Expression | L475P |
| Parkinson's Disease | Genetic/Expression | L475P |
| Severe Combined Immunodeficiency | Genetic/Expression | L475P |
| V(D)J Recombination Defects | Genetic/Expression | L475P |

Key Mutations/Variants

• L475P: functional studies
• R571C: functional studies
• K238fs: functional studies

Therapeutic Implications

DCLRE1C is relevant for therapeutic development:

• Neurodegenerative diseases: DNA repair deficits contribute to neuronal dysfunction
• Cancer therapy: PARP inhibitors are synthetically lethal with BRCA2 deficiency
• Aging: DNA repair decline is a hallmark of aging and neurodegeneration
• Radiosensitivity: DNA repair capacity affects neuronal survival after injury

Therapeutic Strategies

| Strategy | Approach | Status |
|----------|----------|--------|
| Gene therapy | AAV-based delivery | Preclinical |
| Small molecules | DNA repair enhancers | Research |
| Combination therapy | PARP inhibitors + radiation | Clinical (cancer) |

Key Publications

See Also

• [DNA Damage Response Pathway](/mechanisms/dna-damage-response)
• [DNA Repair Mechanisms](/mechanisms/dna-repair-neurodegeneration)
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)
• [Genomic Instability](/mechanisms/genomic-instability)

External Links

• [NCBI Gene: DCLRE1C](https://www.ncbi.nlm.nih.gov/gene/64421)
• [UniProt: DCLRE1C](https://www.uniprot.org/uniprotkb/Q9Y5T5/entry)
• [HGNC: DCLRE1C](https://www.genenames.org/data/hgnc_complete_set/)
• [GeneCards: DCLRE1C](https://www.genecards.org/cgi-bin/carddisp.pl?gene=DCLRE1C)

Animal Models

DCLRE1C knockout mice exhibit severe combined immunodeficiency due to impaired V(D)J recombination. Neuron-specific knockout models show increased sensitivity to DNA double-strand breaks and progressive neurodegeneration. Studies demonstrate that DCLRE1C deficiency leads to impaired DNA repair in post-mitotic [neurons](/entities/neurons). These models help understand the role of Artemis in neuronal genome maintenance.

Research Directions

Research focuses on understanding how DCLRE1C mutations contribute to neurodegeneration, the relationship between V(D)J recombination proteins and neuronal DNA repair, and developing gene therapy approaches for DCLRE1C deficiency. Studies are also investigating the use of DCLRE1C as a biomarker for neuronal DNA repair capacity in aging and neurodegenerative diseases.

Background

The study of Dclre1C 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