RNASEH2B
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RNASEH2B
Ribonuclease H2, subunit B is a protein that in humans is encoded by the RNASEH2B gene.[1] RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C), and degrades the RNA of RNA:DNA hybrids. The non-catalytic B subunit of RNase H2 is thought to play a role in DNA replication.[1]
Mutations in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2).[1][2]
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Contents
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Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Abnormal |
| Recessive lethal study | Abnormal |
| Fertility | Normal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal[3] |
| Citrobacter infection | Abnormal[4] |
| All tests and analysis from[5][6] |
Model organisms have been used in the study of RNASEH2B function. A conditional knockout mouse line, called Rnaseh2btm1a(EUCOMM)Wtsi[7][8] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[9][10][11]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty four tests were carried out on mutant mice and three significant abnormalities were observed.[5] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and an increased susceptibility to bacterial infection was observed in female animals.[5]
References
- ^ a b c "ribonuclease H2, subunit B". http://www.ncbi.nlm.nih.gov/gene/79621. Retrieved 2011-12-04.
- ^ Crow, Y. J.; Leitch, A.; Hayward, B. E.; Garner, A.; Parmar, R.; Griffith, E.; Ali, M.; Semple, C. et al. (2006). "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection". Nature Genetics 38 (8): 910–916. DOI:10.1038/ng1842. PMID 16845400.
- ^ "Salmonella infection data for Rnaseh2b". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBLF/salmonella-challenge/.
- ^ "Citrobacter infection data for Rnaseh2b". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MBLF/citrobacter-challenge/.
- ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. DOI:10.1111/j.1755-3768.2010.4142.x.
- ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ^ "International Knockout Mouse Consortium". http://www.knockoutmouse.org/martsearch/search?query=Rnaseh2b.
- ^ "Mouse Genome Informatics". http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4432164.
- ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M. et al. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. DOI:10.1038/nature10163. PMID 21677750.
- ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. DOI:10.1038/474262a. PMID 21677718.
- ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. DOI:10.1016/j.cell.2006.12.018. PMID 17218247.
- ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. DOI:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=3218837.
Further reading
- Chon, H.; Vassilev, A.; Depamphilis, M. L.; Zhao, Y.; Zhang, J.; Burgers, P. M.; Crouch, R. J.; Cerritelli, S. M. (2008). "Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex". Nucleic Acids Research 37 (1): 96–110. DOI:10.1093/nar/gkn913. PMC 2615623. PMID 19015152. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2615623.
- Crow, Y. J.; Livingston, J. H. (2008). "Aicardi-Goutières syndrome: An important Mendelian mimic of congenital infection". Developmental Medicine & Child Neurology 50 (6): 410–416. DOI:10.1111/j.1469-8749.2008.02062.x. PMID 18422679.
- Ali, M.; Highet, L. J.; Lacombe, D.; Goizet, C.; King, M. D.; Tacke, U.; Van Der Knaap, M. S.; Lagae, L. et al. (2005). "A second locus for Aicardi‐Goutières syndrome at chromosome 13q14–21". Journal of Medical Genetics 43 (5): 444–450. DOI:10.1136/jmg.2005.031880. PMC 2649012. PMID 15908569. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2649012.
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