DCLRE1C

Official Full Name

DNA cross-link repair 1C

Organism

Homo sapiens

GeneID

64421

Background

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Synonyms

SCIDA; SNM1C; A-SCID; RS-SCID; DCLREC1C;

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Detailed Information

DNA cross-link repair 1C (DCLRE1C) gene is an essential player in the maintenance of genome stability. Mutation or deletion of this gene can lead to defects in DNA repair, which in turn can result in genome instability and the development of various diseases, including cancer.

DNA cross-linking agents are environmental pollutants, and endogenous DNA cross-links can also arise during normal cell metabolism. The presence of cross-links can lead to genome instability and cell death if not repaired promptly. Therefore, the DNA cross-link repair (DCLR) pathway has evolved to maintain genome stability. DCLRE1C is a crucial gene in this pathway that repairs DNA cross-links through the nucleotide excision repair (NER) pathway.

Structure And Function of DCLRE1C

The DCLRE1C gene is evolutionarily conserved across various species. The human DCLRE1C gene encodes a protein of 517 amino acids, with a predicted molecular weight of 56 kDa. The structure of DCLRE1C contains several conserved domains, including a nuclear localization signal (NLS), a BRCT domain, and a highly conserved C-terminal region. The NLS is responsible for the nuclear import of DCLRE1C, while the BRCT domain is involved in the recognition and repair of DNA cross-links. The C-terminal region contains a catalytic core that is essential for the repair activity.

Mechanism of Action

DCLRE1C is a homing endonuclease that repairs DNA cross-links by cleaving the cross-linked DNA at the site of the lesion. It recognizes a specific DNA sequence surrounding the cross-link and generates a double-strand break (DSB) at the site. Subsequently, the cell's DNA repair machinery, such as the NER pathway, is recruited to the site of the lesion, leading to the repair of the cross-link. DCLRE1C also interacts with other proteins, such as XPA and RAD51, to facilitate the repair process.

Roles of DCLRE1C in Disease

Maintaining genome stability is crucial for cell survival and development. Defects in the DCLRE1C gene can lead to impairment in DNA cross-link repair, resulting in chromosomal aberrations, mutation, and genome instability. Genome instability is a hallmark of various diseases, including cancer, birth defects, and premature aging. Thus, DCLRE1C plays a vital role in maintaining genome stability and preventing the development of several diseases.

References:

Wu, Zeguang et al. "NK Cells from RAG- or DCLRE1C-Deficient Patients Inhibit HCMV." Microorganisms vol. 7,11 546. 10 Nov. 2019, doi:10.3390/microorganisms7110546
Cowan, Morton J et al. "Lentiviral Gene Therapy for Artemis-Deficient SCID." The New England journal of medicine vol. 387,25 (2022): 2344-2355. doi:10.1056/NEJMoa2206575

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