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]
FunctionEdit
The DCLRE1B/SNM1B/Apollo protein is a repair exonuclease that digests double-stranded and single-stranded DNA with a 5’ to 3’ directionality.[6]
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]
ReferencesEdit
^ abcGRCh38: Ensembl release 89: ENSG00000118655 - Ensembl, May 2017
^ abcGRCm38: 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.
^ ab"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. PMC3406710. 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. PMC3719988. PMID 20854421.
^ abTouzot 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. PMC2890423. PMID 20479256.
Further readingEdit
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. PMC139241. 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.
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. PMC528928. 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. PMC533992. 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. 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. doi:10.1016/j.cub.2006.05.022. PMID 16730176. S2CID 121737.
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.
dclre1b, cross, link, repair, protein, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes3bua, 5ahoidentifiersaliases, apollo, snm1b, snmib, cross, link, repair, 1bexternal, idsomim, 609683, 2156057, homologen. DNA cross link repair 1B protein is a protein that in humans is encoded by the DCLRE1B gene 5 DCLRE1BAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes3BUA 5AHOIdentifiersAliasesDCLRE1B APOLLO SNM1B SNMIB DNA cross link repair 1BExternal IDsOMIM 609683 MGI 2156057 HomoloGene 32553 GeneCards DCLRE1BGene location Human Chr Chromosome 1 human 1 Band1p13 2Start113 905 213 bp 1 End113 914 086 bp 1 Gene location Mouse Chr Chromosome 3 mouse 2 Band3 3 F2 2Start103 707 921 bp 2 End103 716 760 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insecondary oocyteganglionic eminencemonocytebone marrowcancellous bonestromal cell of endometriumpalpebral conjunctivapopliteal arterybone marrow cellsislet of LangerhansTop expressed inbloodcumulus cellyolk sacendocardial cushionexternal carotid arteryabdominal walluretervas deferenssecondary oocyteinternal carotid arteryMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular function5 3 exonuclease activity 5 3 exodeoxyribonuclease activity damaged DNA binding protein binding nuclease activity exonuclease activity hydrolase activity protein homodimerization activity protein containing complex bindingCellular componentcytoplasm centrosome chromosome microtubule organizing center telomere cytoskeleton nucleus nucleoplasm nuclear bodyBiological processcell cycle checkpoint signaling protection from non homologous end joining at telomere telomeric 3 overhang formation cellular response to DNA damage stimulus double strand break repair via nonhomologous end joining telomere maintenance telomeric loop formation DNA repair nucleic acid phosphodiester bond hydrolysis telomere maintenance via telomere lengthening telomere capping interstrand cross link repair mitotic cell cycle checkpoint signalingSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez64858140917EnsemblENSG00000118655ENSMUSG00000027845UniProtQ9H816Q8C7W7RefSeq mRNA NM 022836NM 001319946NM 001319947NM 001363690NM 001363691NM 001025312NM 133865RefSeq protein NP 001306875NP 001306876NP 073747NP 001350619NP 001350620NP 001020483NP 598626Location UCSC Chr 1 113 91 113 91 MbChr 3 103 71 103 72 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseDNA 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 Function EditThe 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 References Edit 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 Sengerova 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 Further reading EditStrausberg 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 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 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 doi 10 1016 j cub 2006 05 022 PMID 16730176 S2CID 121737 This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title DCLRE1B amp oldid 1170991532, wikipedia, wiki, book, books, library,
