Biology:DCLRE1B
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DNA cross-link repair 1B protein is a protein that in humans is encoded by the DCLRE1B gene.[1]
DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000).[supplied by OMIM][1]
Function
The DCLRE1B/SNM1B/Apollo protein is a repair exonuclease that digests double-stranded and single-stranded DNA with a 5’ to 3’ directionality.[2]
Using an SNM1B/Apollo knockout mouse model, evidence was obtained that SNM1B/Apollo protein is required to protect telomeres against illegitimate non-homologous end joining that can result in genomic instability and consequently in multi-organ developmental failure.[3]
In a human patient with Hoyeraal-Hreidarsson syndrome, a dominant negative mutation in the SNM1B/Apollo gene was discovered.[4] This mutation hampered the proper replication of telomeres, leading to major telomeric dysfunction and cellular senescence. SNM1B/Apollo protein appears to be a crucial factor in telomere maintenance, independent of its function in repairing DNA inter-strand crosslinks.[4]
References
- ↑ 1.0 1.1 "Entrez Gene: DCLRE1B DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64858.
- ↑ "Characterization of the human SNM1A and SNM1B/Apollo DNA repair exonucleases". J. Biol. Chem. 287 (31): 26254–67. 2012. doi:10.1074/jbc.M112.367243. PMID 22692201.
- ↑ "The telomeric protein SNM1B/Apollo is required for normal cell proliferation and embryonic development". Aging Cell 9 (6): 1047–56. 2010. doi:10.1111/j.1474-9726.2010.00631.x. PMID 20854421.
- ↑ 4.0 4.1 "Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome". Proc. Natl. Acad. Sci. U.S.A. 107 (22): 10097–102. 2010. doi:10.1073/pnas.0914918107. PMID 20479256. Bibcode: 2010PNAS..10710097T.
Further reading
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Human SNM1B is required for normal cellular response to both DNA interstrand crosslink-inducing agents and ionizing radiation.". Oncogene 23 (53): 8611–8. 2004. doi:10.1038/sj.onc.1207895. PMID 15467758.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "DNA cross-link repair protein SNM1A interacts with PIAS1 in nuclear focus formation.". Mol. Cell. Biol. 24 (24): 10733–41. 2004. doi:10.1128/MCB.24.24.10733-10741.2004. PMID 15572677.
- "hSnm1B is a novel telomere-associated protein.". J. Biol. Chem. 281 (22): 15033–6. 2006. doi:10.1074/jbc.C600038200. PMID 16606622.
- "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. 2006. doi:10.1038/nature04727. PMID 16710414. Bibcode: 2006Natur.441..315G.
- "The Apollo 5' exonuclease functions together with TRF2 to protect telomeres from DNA repair.". Curr. Biol. 16 (13): 1303–10. 2006. doi:10.1016/j.cub.2006.05.021. PMID 16730175.
- "Apollo, an Artemis-related nuclease, interacts with TRF2 and protects human telomeres in S phase.". Curr. Biol. 16 (13): 1295–302. 2006. doi:10.1016/j.cub.2006.05.022. PMID 16730176.
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