DCLRE1B

DNA cross-link repair 1B protein is a protein that in humans is encoded by the DCLRE1B gene.[5]

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
Orthologs
SpeciesHumanMouse
Entrez

64858

140917

Ensembl

ENSG00000118655

ENSMUSG00000027845

UniProt

Q9H816

Q8C7W7

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 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

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

  1. GRCh38: Ensembl release 89: ENSG00000118655 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000027845 - Ensembl, 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. "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. 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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