MRE11A

Este gen codifica una proteína nuclear implicada en el proceso de recombinación homóloga, en el mantenimiento de la longitud adecuada del telómero y en reparación de cortes sufridos en la doble hebra del ADN. Por sí misma, esta proteína posee actividad endo- y exonucleasa 3' y 5'. Junto con la ADN ligasa, esta proteína promueve la unión de extremos no complementarios in vitro, utilizando cortas homologías cerca de los extremos de los fragmentos de ADN. Este gen tiene un pseudogén en el cromosoma 3. Se han descrito dos variantes transcripcionales de este gen que codifican diferentes isoformas de la proteína.^[2]

Referencias

↑ Petrini JH, Walsh ME, DiMare C, Chen XN, Korenberg JR, Weaver DT (Feb de 1996). «Isolation and characterization of the human MRE11 homologue». Genomics 29 (1): 80-6. PMID 8530104. doi:10.1006/geno.1995.1217.
↑ «Entrez Gene: MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)».
1 2 Goedecke, W; Eijpe M, Offenberg H H, van Aalderen M, Heyting C (Oct. de 1999). «Mre11 and Ku70 interact in somatic cells, but are differentially expressed in early meiosis». Nat. Genet. (UNITED STATES) 23 (2): 194-8. ISSN 1061-4036. PMID 10508500. doi:10.1038/13821.
↑ Kim, S T; Lim D S, Canman C E, Kastan M B (Dec. de 1999). «Substrate specificities and identification of putative substrates of ATM kinase family members». J. Biol. Chem. (UNITED STATES) 274 (53): 37538-43. ISSN 0021-9258. PMID 10608806.
1 2 3 4 Wang, Y; Cortez D, Yazdi P, Neff N, Elledge S J, Qin J (Apr. de 2000). «BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures». Genes Dev. (UNITED STATES) 14 (8): 927-39. ISSN 0890-9369. PMID 10783165.
↑ Xu, Xingzhi; Stern David F (Oct. de 2003). «NFBD1/MDC1 regulates ionizing radiation-induced focus formation by DNA checkpoint signaling and repair factors». FASEB J. (United States) 17 (13): 1842-8. PMID 14519663. doi:10.1096/fj.03-0310com.
1 2 Chiba, N; Parvin J D (Oct. de 2001). «Redistribution of BRCA1 among four different protein complexes following replication blockage». J. Biol. Chem. (United States) 276 (42): 38549-54. ISSN 0021-9258. PMID 11504724. doi:10.1074/jbc.M105227200.
↑ Dolganov, G M; Maser R S, Novikov A, Tosto L, Chong S, Bressan D A, Petrini J H (Sep. de 1996). «Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair». Mol. Cell. Biol. (UNITED STATES) 16 (9): 4832-41. ISSN 0270-7306. PMID 8756642.
1 2 Trujillo, K M; Yuan S S, Lee E Y, Sung P (Aug. de 1998). «Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95». J. Biol. Chem. (UNITED STATES) 273 (34): 21447-50. ISSN 0021-9258. PMID 9705271.
↑ Cerosaletti, Karen M; Concannon Patrick (Jun. de 2003). «Nibrin forkhead-associated domain and breast cancer C-terminal domain are both required for nuclear focus formation and phosphorylation». J. Biol. Chem. (United States) 278 (24): 21944-51. ISSN 0021-9258. PMID 12679336. doi:10.1074/jbc.M211689200.
↑ Matsuzaki, Kenichiro; Shinohara Akira, Shinohara Miki (mayo. de 2008). «Forkhead-associated domain of yeast Xrs2, a homolog of human Nbs1, promotes nonhomologous end joining through interaction with a ligase IV partner protein, Lif1». Genetics (United States) 179 (1): 213-25. ISSN 0016-6731. PMID 18458108. doi:10.1534/genetics.107.079236.
↑ Desai-Mehta, A; Cerosaletti K M, Concannon P (Mar. de 2001). «Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization». Mol. Cell. Biol. (United States) 21 (6): 2184-91. ISSN 0270-7306. PMID 11238951. doi:10.1128/MCB.21.6.2184-2191.2001.
↑ Zhu, X D; Küster B, Mann M, Petrini J H, de Lange T (Jul. de 2000). «Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres». Nat. Genet. (UNITED STATES) 25 (3): 347-52. ISSN 1061-4036. PMID 10888888. doi:10.1038/77139.
↑ Paull, T T; Cortez D, Bowers B, Elledge S J, Gellert M (mayo. de 2001). «Direct DNA binding by Brca1». Proc. Natl. Acad. Sci. U.S.A. (United States) 98 (11): 6086-91. ISSN 0027-8424. PMID 11371630. doi:10.1073/pnas.111125998.
↑ Zhong, Q; Chen C F, Li S, Chen Y, Wang C C, Xiao J, Chen P L, Sharp Z D, Lee W H (Jul. de 1999). «Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response». Science (UNITED STATES) 285 (5428): 747-50. ISSN 0036-8075. PMID 10426999.

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