HIRA
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Protein HIRA is a protein that in humans is encoded by the HIRA gene.[1][2][3][4] This gene is mapped to 22q11.21, centromeric to COMT.[4]
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[edit] Function
The specific function of this protein has yet to be determined; however, it has been speculated to play a role in transcriptional regulation and/or chromatin and histone metabolism.[4]
[edit] Clinical significance
It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development.[4]
[edit] Model organisms
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | 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 |
| Haematology | Abnormal[5] |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Eye Histopathology | Normal |
| Salmonella infection | Normal[6] |
| All tests and analysis from[7][8] |
Model organisms have been used in the study of HIRA function. A conditional knockout mouse line, called Hiratm1a(EUCOMM)Wtsi[9][10] 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.[11][12][13]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[7][14] Twenty two tests were carried out on mutant mice and two significant abnormalities were observed.[7] No homozygous mutant mice survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and a decreased leukocyte cell number was recorded in male animals.[7]
[edit] Interactions
HIRA has been shown to interact with HIST1H2BK.[15]
[edit] References
- ^ Halford S, Wadey R, Roberts C, Daw SC, Whiting JA, O'Donnell H, Dunham I, Bentley D, Lindsay E, Baldini A, et al. (Mar 1994). "Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease". Hum Mol Genet 2 (12): 2099–107. doi:10.1093/hmg/2.12.2099. PMID 8111380.
- ^ Lamour V, Lecluse Y, Desmaze C, Spector M, Bodescot M, Aurias A, Osley MA, Lipinski M (Sep 1995). "A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region". Hum Mol Genet 4 (5): 791–9. doi:10.1093/hmg/4.5.791. PMID 7633437.
- ^ Magnaghi P, Roberts C, Lorain S, Lipinski M, Scambler PJ (Oct 1998). "HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3". Nat Genet 20 (1): 74–7. doi:10.1038/1739. PMID 9731536.
- ^ a b c d "Entrez Gene: HIRA HIR histone cell cycle regulation defective homolog A (S. cerevisiae)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7290.
- ^ "Haematology data for Hira". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MCBV/haematology-cbc/.
- ^ "Salmonella infection data for Hira". Wellcome Trust Sanger Institute. http://www.sanger.ac.uk/mouseportal/phenotyping/MCBV/salmonella-challenge/.
- ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Opthalmologica 88: 925-7.doi:10.1111/j.1755-3768.2010.4142.x: Wiley. http://onlinelibrary.wiley.com/doi/10.1111/j.1755-3768.2010.4142.x/abstract.
- ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ^ "International Knockout Mouse Consortium". http://www.knockoutmouse.org/martsearch/search?query=Hira.
- ^ "Mouse Genome Informatics". http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4431679.
- ^ 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 (June 2011). "Mouse library set to be knockout". Nature 474: 262-263. doi:10.1038/474262a. http://www.nature.com/news/2011/110615/full/474262a.html.
- ^ Collins FS, Rossant J, Wurst W (January 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. PMID 21722353. http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21722353.
- ^ Lorain S, Quivy JP, Monier-Gavelle F, Scamps C, Lécluse Y, Almouzni G, Lipinski M (September 1998). "Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA". Mol. Cell. Biol. 18 (9): 5546–56. PMC 109139. PMID 9710638. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=109139.
[edit] Further reading
- Lorain S, Demczuk S, Lamour V, et al. (1996). "Structural Organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22.". Genome Res. 6 (1): 43–50. doi:10.1101/gr.6.1.43. PMID 8681138.
- Llevadot R, Scambler P, Estivill X, Pritchard M (1997). "Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome.". Mamm. Genome 7 (12): 911–4. doi:10.1007/s003359900268. PMID 8995764.
- Lorain S, Quivy JP, Monier-Gavelle F, et al. (1998). "Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA.". Mol. Cell. Biol. 18 (9): 5546–56. PMC 109139. PMID 9710638. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=109139.
- Hall C, Nelson DM, Ye X, et al. (2001). "HIRA, the human homologue of yeast Hir1p and Hir2p, is a novel cyclin-cdk2 substrate whose expression blocks S-phase progression.". Mol. Cell. Biol. 21 (5): 1854–65. doi:10.1128/MCB.21.5.1854-1865.2001. PMC 86753. PMID 11238922. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=86753.
- Lorain S, Lécluse Y, Scamps C, et al. (2001). "Identification of human and mouse HIRA-interacting protein-5 (HIRIP5), two mammalian representatives in a family of phylogenetically conserved proteins with a role in the biogenesis of Fe/S proteins.". Biochim. Biophys. Acta 1517 (3): 376–83. PMID 11342215.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Lehner B, Sanderson CM (2004). "A protein interaction framework for human mRNA degradation.". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC 442147. PMID 15231747. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=442147.
- Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=545604.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Gocke CB, Yu H, Kang J (2005). "Systematic identification and analysis of mammalian small ubiquitin-like modifier substrates.". J. Biol. Chem. 280 (6): 5004–12. doi:10.1074/jbc.M411718200. PMID 15561718.
- Zhang R, Poustovoitov MV, Ye X, et al. (2005). "Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA.". Dev. Cell 8 (1): 19–30. doi:10.1016/j.devcel.2004.10.019. PMID 15621527.
- Ahmad A, Kikuchi H, Takami Y, Nakayama T (2005). "Different roles of N-terminal and C-terminal halves of HIRA in transcription regulation of cell cycle-related genes that contribute to control of vertebrate cell growth.". J. Biol. Chem. 280 (37): 32090–100. doi:10.1074/jbc.M501426200. PMID 16024922.
- Tang Y, Poustovoitov MV, Zhao K, et al. (2006). "Structure of a human ASF1a-HIRA complex and insights into specificity of histone chaperone complex assembly.". Nat. Struct. Mol. Biol. 13 (10): 921–9. doi:10.1038/nsmb1147. PMC 2933817. PMID 16980972. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2933817.
- Zhang R, Chen W, Adams PD (2007). "Molecular dissection of formation of senescence-associated heterochromatin foci.". Mol. Cell. Biol. 27 (6): 2343–58. doi:10.1128/MCB.02019-06. PMC 1820509. PMID 17242207. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1820509.
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