DCLRE1B: Difference between revisions
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The DCLRE1B/SNM1B/Apollo protein is a repair [[exonuclease]] that digests double-stranded and single-stranded [[DNA]] with a 5’ to 3’ directionality.<ref name="pmid22692201">{{cite journal |vauthors=Sengerová B, Allerston CK, Abu M, Lee SY, Hartley J, Kiakos K, Schofield CJ, Hartley JA, Gileadi O, McHugh PJ |title=Characterization of the human SNM1A and SNM1B/Apollo DNA repair exonucleases |journal=J. Biol. Chem. |volume=287 |issue=31 |pages=26254–67 |year=2012 |pmid=22692201 |pmc=3406710 |doi=10.1074/jbc.M112.367243 |url=}}</ref> | The DCLRE1B/SNM1B/Apollo protein is a repair [[exonuclease]] that digests double-stranded and single-stranded [[DNA]] with a 5’ to 3’ directionality.<ref name="pmid22692201">{{cite journal |vauthors=Sengerová B, Allerston CK, Abu M, Lee SY, Hartley J, Kiakos K, Schofield CJ, Hartley JA, Gileadi O, McHugh PJ |title=Characterization of the human SNM1A and SNM1B/Apollo DNA repair exonucleases |journal=J. Biol. Chem. |volume=287 |issue=31 |pages=26254–67 |year=2012 |pmid=22692201 |pmc=3406710 |doi=10.1074/jbc.M112.367243 |url=}}</ref> | ||
Using an SNM1B/Apollo [[knockout mouse]] model, evidence was obtained that SNM1B/Apollo protein is required to protect [[telomere]]s against illegitimate [[non-homologous end joining]] that can result in genomic instability and consequently in multi-organ developmental failure.<ref name="pmid20854421">{{cite journal |vauthors=Akhter S, Lam YC, Chang S, Legerski RJ |title=The telomeric protein SNM1B/Apollo is required for normal cell proliferation and embryonic development |journal=Aging Cell |volume=9 |issue=6 |pages=1047–56 |year=2010 |pmid=20854421 |pmc=3719988 |doi=10.1111/j.1474-9726.2010.00631.x |url=}}</ref> | Using an SNM1B/Apollo [[knockout mouse]] model, evidence was obtained that SNM1B/Apollo protein is required to protect [[telomere]]s against illegitimate [[non-homologous end joining]] that can result in [[genomic instability]]y and consequently in multi-organ developmental failure.<ref name="pmid20854421">{{cite journal |vauthors=Akhter S, Lam YC, Chang S, Legerski RJ |title=The telomeric protein SNM1B/Apollo is required for normal cell proliferation and embryonic development |journal=Aging Cell |volume=9 |issue=6 |pages=1047–56 |year=2010 |pmid=20854421 |pmc=3719988 |doi=10.1111/j.1474-9726.2010.00631.x |url=}}</ref> | ||
In a human patient with [[Hoyeraal-Hreidarsson syndrome]], a dominant negative mutation in the SNM1B/Apollo gene was discovered.<ref name="pmid20479256">{{cite journal |vauthors=Touzot F, Callebaut I, Soulier J, Gaillard L, Azerrad C, Durandy A, Fischer A, de Villartay JP, Revy P |title=Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=107 |issue=22 |pages=10097–102 |year=2010 |pmid=20479256 |pmc=2890423 |doi=10.1073/pnas.0914918107 |url=}}</ref> 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 [[Crosslinking of DNA|DNA inter-strand crosslinks]].<ref name="pmid20479256" /> | In a human patient with [[Hoyeraal-Hreidarsson syndrome]], a dominant negative mutation in the SNM1B/Apollo gene was discovered.<ref name="pmid20479256">{{cite journal |vauthors=Touzot F, Callebaut I, Soulier J, Gaillard L, Azerrad C, Durandy A, Fischer A, de Villartay JP, Revy P |title=Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=107 |issue=22 |pages=10097–102 |year=2010 |pmid=20479256 |pmc=2890423 |doi=10.1073/pnas.0914918107 |url=}}</ref> 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 [[Crosslinking of DNA|DNA inter-strand crosslinks]].<ref name="pmid20479256" /> | ||
Latest revision as of 21:31, 13 February 2018
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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 instabilityy 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)".
- ↑ 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.
- ↑ 4.0 4.1 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. doi:10.1073/pnas.0914918107. PMC 2890423. PMID 20479256.
Further reading
- 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. 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. 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.
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