Protein-coding gene in the species Homo sapiens
Ribonuclease H2 subunit A , also known as RNase H2 subunit A , is an enzyme that in humans is encoded by the RNASEH2A gene .[5]
Function The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNaseH2). The other two subunits are the non-catalytic RNASEH2B and RNASEH2C . RNaseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides . It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes.[5]
Clinical significance Mutations in this gene cause Aicardi–Goutières syndrome (AGS), an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid .[5]
References Further reading
Crow YJ, Leitch A, Hayward BE, et al. (2006). "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection". Nat. Genet . 38 (8): 910–6. doi :10.1038/ng1842 . PMID 16845400 . S2CID 8076225 . Chon H, Vassilev A, DePamphilis ML, et al. (2009). "Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex" . Nucleic Acids Res . 37 (1): 96–110. doi :10.1093/nar/gkn913 . PMC 2615623 PMID 19015152 . Flanagan JM, Funes JM, Henderson S, et al. (2009). "Genomics screen in transformed stem cells reveals RNASEH2A, PPAP2C, and ADARB1 as putative anticancer drug targets" . Mol. Cancer Ther . 8 (1): 249–60. doi :10.1158/1535-7163.MCT-08-0636 PMID 19139135 . 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 . Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806. doi :10.1101/gr.6.9.791 PMID 8889548 . Rice G, Patrick T, Parmar R, et al. (2007). "Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome" . Am. J. Hum. Genet . 81 (4): 713–25. doi :10.1086/521373 . PMC 2227922 PMID 17846997 . Frank P, Braunshofer-Reiter C, Wintersberger U, et al. (1998). "Cloning of the cDNA encoding the large subunit of human RNase HI, a homologue of the prokaryotic RNase HII" . Proc. Natl. Acad. Sci. U.S.A . 95 (22): 12872–7. Bibcode :1998PNAS...9512872F . doi :10.1073/pnas.95.22.12872 PMC 23637 PMID 9789007 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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 . Ganesh SK, Zakai NA, van Rooij FJ, et al. (2009). "Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium" . Nat. Genet . 41 (11): 1191–8. doi :10.1038/ng.466 . PMC 2778265 PMID 19862010 .
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