DCLRE1C
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DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae), also known as DCLRE1C, is a human gene.
This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins when complexed with protein kinase, DNA-activated, catalytic polypeptide. Mutations in this gene cause Athabascan-type severe combined immunodeficiency (SCIDA).[1]
References
Further reading
- Dudásová Z, Chovanec M (2004). "Artemis, a novel guardian of the genome". Neoplasma. 50 (5): 311–8. PMID 14628082.
- Adams MD, Kerlavage AR, Fleischmann RD; et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence". Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
- Li L, Drayna D, Hu D; et al. (1998). "The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p". Am. J. Hum. Genet. 62 (1): 136–44. PMID 9443881.
- Wood RD, Mitchell M, Sgouros J, Lindahl T (2001). "Human DNA repair genes". Science. 291 (5507): 1284–9. doi:10.1126/science.1056154. PMID 11181991.
- Moshous D, Callebaut I, de Chasseval R; et al. (2001). "Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency". Cell. 105 (2): 177–86. PMID 11336668.
- Ma Y, Pannicke U, Schwarz K, Lieber MR (2002). "Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination". Cell. 108 (6): 781–94. PMID 11955432.
- Li L, Moshous D, Zhou Y; et al. (2002). "A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans". J. Immunol. 168 (12): 6323–9. PMID 12055248.
- Callebaut I, Moshous D, Mornon JP, de Villartay JP (2002). "Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family". Nucleic Acids Res. 30 (16): 3592–601. PMID 12177301.
- Noordzij JG, Verkaik NS, van der Burg M; et al. (2003). "Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow". Blood. 101 (4): 1446–52. doi:10.1182/blood-2002-01-0187. PMID 12406895.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Moshous D, Pannetier C, Chasseval Rd R; et al. (2003). "Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis". J. Clin. Invest. 111 (3): 381–7. PMID 12569164.
- Kobayashi N, Agematsu K, Sugita K; et al. (2003). "Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families". Hum. Genet. 112 (4): 348–52. doi:10.1007/s00439-002-0897-x. PMID 12592555.
- Kobayashi N, Agematsu K, Nagumo H; et al. (2003). "Expansion of clonotype-restricted HLA-identical maternal CD4+ T cells in a patient with severe combined immunodeficiency and a homozygous mutation in the Artemis gene". Clin. Immunol. 108 (2): 159–66. PMID 12921762.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Poinsignon C, Moshous D, Callebaut I; et al. (2004). "The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination". J. Exp. Med. 199 (3): 315–21. doi:10.1084/jem.20031142. PMID 14744996.
- Pannicke U, Ma Y, Hopfner KP; et al. (2005). "Functional and biochemical dissection of the structure-specific nuclease ARTEMIS". EMBO J. 23 (9): 1987–97. doi:10.1038/sj.emboj.7600206. PMID 15071507.
- Deloukas P, Earthrowl ME, Grafham DV; et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054.
- Zhang X, Succi J, Feng Z; et al. (2004). "Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response". Mol. Cell. Biol. 24 (20): 9207–20. doi:10.1128/MCB.24.20.9207-9220.2004. PMID 15456891.
- Poinsignon C, de Chasseval R, Soubeyrand S; et al. (2004). "Phosphorylation of Artemis following irradiation-induced DNA damage". Eur. J. Immunol. 34 (11): 3146–55. doi:10.1002/eji.200425455. PMID 15468306.