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DCLRE1B

From Wikipedia, the free encyclopedia

DCLRE1B
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDCLRE1B, APOLLO, SNM1B, SNMIB, DNA cross-link repair 1B
External IDsOMIM: 609683; MGI: 2156057; HomoloGene: 32553; GeneCards: DCLRE1B; OMA:DCLRE1B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_022836
NM_001319946
NM_001319947
NM_001363690
NM_001363691

NM_001025312
NM_133865

RefSeq (protein)

NP_001306875
NP_001306876
NP_073747
NP_001350619
NP_001350620

NP_001020483
NP_598626

Location (UCSC)Chr 1: 113.91 – 113.91 MbChr 3: 103.71 – 103.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Function

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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.[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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000118655Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027845Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: DCLRE1B DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)".
  6. ^ 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.
  7. ^ 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.
  8. ^ 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

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