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Gene Review

RNASEH2A  -  ribonuclease H2, subunit A

Homo sapiens

Synonyms: AGS4, Aicardi-Goutieres syndrome 4 protein, JUNB, RNASEHI, RNHIA, ...
 
 
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Disease relevance of RNASEH2A

  • The intracellular localization of the enzymes, assayed by green-fluorescent protein fusions, showed that RNase H1 was present throughout the whole cell for all cell types analyzed, whereas RNase H2 was restricted to the nucleus in all cells except the prostate cancer line 15PC3 that expressed the protein throughout the cell [1].
 

High impact information on RNASEH2A

  • Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation [2].
  • Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection [2].
  • The idea of a mammalian RNase HI large subunit being a strongly conserved protein is substantiated by the existence of homologous ORFs in the genomes of other eukaryotes and of all eubacteria and archaebacteria that have been completely sequenced [3].
  • (2006) Nature Genetics 38: 917-920 Mutations in the genes encoding ribonuclease H2 subunits cause Aicardi-Gouti??res syndrome and mimic congenital brain infection Crow et al [4].
  • Mutational analysis of the entire gene, and methylation analysis of CpG sites at the promoter area of JUNB, showed no specific changes between cancerous and paired non-cancerous tissues [5].
 

Biological context of RNASEH2A

 

Anatomical context of RNASEH2A

References

  1. The involvement of human ribonucleases H1 and H2 in the variation of response of cells to antisense phosphorothioate oligonucleotides. ten Asbroek, A.L., van Groenigen, M., Nooij, M., Baas, F. Eur. J. Biochem. (2002) [Pubmed]
  2. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Crow, Y.J., Leitch, A., Hayward, B.E., Garner, A., Parmar, R., Griffith, E., Ali, M., Semple, C., Aicardi, J., Babul-Hirji, R., Baumann, C., Baxter, P., Bertini, E., Chandler, K.E., Chitayat, D., Cau, D., Déry, C., Fazzi, E., Goizet, C., King, M.D., Klepper, J., Lacombe, D., Lanzi, G., Lyall, H., Martínez-Frías, M.L., Mathieu, M., McKeown, C., Monier, A., Oade, Y., Quarrell, O.W., Rittey, C.D., Rogers, R.C., Sanchis, A., Stephenson, J.B., Tacke, U., Till, M., Tolmie, J.L., Tomlin, P., Voit, T., Weschke, B., Woods, C.G., Lebon, P., Bonthron, D.T., Ponting, C.P., Jackson, A.P. Nat. Genet. (2006) [Pubmed]
  3. Cloning of the cDNA encoding the large subunit of human RNase HI, a homologue of the prokaryotic RNase HII. Frank, P., Braunshofer-Reiter, C., Wintersberger, U., Grimm, R., Büsen, W. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  4. Searching for the Aicardi-Gouti??res syndrome genes: TREX1 and ribonuclease H2 make the cut. Karasinska, J. Clin. Genet. (2006) [Pubmed]
  5. Abnormal expression of JUNB gene in hepatocellular carcinoma. Chang, Y.S., Yeh, K.T., Yang, M.Y., Liu, T.C., Lin, S.F., Chan, W.L., Chang, J.G. Oncol. Rep. (2005) [Pubmed]
  6. Multiple ribonuclease H-encoding genes in the Caenorhabditis elegans genome contrasts with the two typical ribonuclease H-encoding genes in the human genome. Arudchandran, A., Cerritelli, S.M., Bowen, N.J., Chen, X., Krause, M.W., Crouch, R.J. Mol. Biol. Evol. (2002) [Pubmed]
 
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