Protein-coding gene in the species Homo sapiens
DNA cross-link repair 1B protein is a protein that in humans is encoded by the DCLRE1B gene .[ 5]
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][ 5]
The DCLRE1B/SNM1B/Apollo protein is a repair exonuclease that digests double-stranded and single-stranded DNA with a 5’ to 3’ directionality.[ 6]
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.[ 7]
In a human patient with Hoyeraal-Hreidarsson syndrome , a dominant negative mutation in the SNM1B/Apollo gene was discovered.[ 8] 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 .[ 8]
^ a b c GRCh38: Ensembl release 89: ENSG00000118655 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027845 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ a b "Entrez Gene: DCLRE1B DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)" .
^ Sengerová B, Allerston CK, Abu M, Lee SY, Hartley J, Kiakos K, Schofield CJ, Hartley JA, Gileadi O, McHugh PJ (2012). "Characterization of the human SNM1A and SNM1B/Apollo DNA repair exonucleases" . J. Biol. Chem . 287 (31): 26254–67. doi :10.1074/jbc.M112.367243 . PMC 3406710 . PMID 22692201 .
^ Akhter S, Lam YC, Chang S, Legerski RJ (2010). "The telomeric protein SNM1B/Apollo is required for normal cell proliferation and embryonic development" . Aging Cell . 9 (6): 1047–56. doi :10.1111/j.1474-9726.2010.00631.x . PMC 3719988 . PMID 20854421 .
^ a b Touzot F, Callebaut I, Soulier J, Gaillard L, Azerrad C, Durandy A, Fischer A, de Villartay JP, Revy P (2010). "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. Bibcode :2010PNAS..10710097T . doi :10.1073/pnas.0914918107 . PMC 2890423 . PMID 20479256 .
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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 . PMC 139241 . PMID 12477932 .
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 .
Demuth I, Digweed M, Concannon P (2004). "Human SNM1B is required for normal cellular response to both DNA interstrand crosslink-inducing agents and ionizing radiation". Oncogene . 23 (53): 8611–8. doi :10.1038/sj.onc.1207895 . PMID 15467758 . S2CID 10082205 .
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 . PMID 15489334 .
Ishiai M, Kimura M, Namikoshi K, et al. (2004). "DNA cross-link repair protein SNM1A interacts with PIAS1 in nuclear focus formation" . Mol. Cell. Biol . 24 (24): 10733–41. doi :10.1128/MCB.24.24.10733-10741.2004 . PMC 533992 . PMID 15572677 .
Freibaum BD, Counter CM (2006). "hSnm1B is a novel telomere-associated protein" . J. Biol. Chem . 281 (22): 15033–6. doi :10.1074/jbc.C600038200 . PMID 16606622 .
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1" . Nature . 441 (7091): 315–21. Bibcode :2006Natur.441..315G . doi :10.1038/nature04727 . PMID 16710414 .
Lenain C, Bauwens S, Amiard S, et al. (2006). "The Apollo 5' exonuclease functions together with TRF2 to protect telomeres from DNA repair" . Curr. Biol . 16 (13): 1303–10. Bibcode :2006CBio...16.1303L . doi :10.1016/j.cub.2006.05.021 . PMID 16730175 .
van Overbeek M, de Lange T (2006). "Apollo, an Artemis-related nuclease, interacts with TRF2 and protects human telomeres in S phase" . Curr. Biol . 16 (13): 1295–302. Bibcode :2006CBio...16.1295V . doi :10.1016/j.cub.2006.05.022 . PMID 16730176 . S2CID 121737 .