MYH9
Myosin, heavy chain 9, non-muscle is a protein which in humans is encoded by the MYH9 gene.[1][2]
Clinical significance
MYH9 polymorphisms have been shown to associate with glomerulosclerosis[3] and non-diabetic end stage renal disease[4] in African Americans and in Hispanic Americans,[5] though it was later shown that two independent variants in the nearby APOL1 gene were responsible for the increased risk of disease.[6][7]
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 |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Skin Histopathology | Normal |
| Eye Histopathology | Normal |
| Salmonella infection | Normal[8] |
| Citrobacter infection | Normal[9] |
| All tests and analysis from[10][11] |
Model organisms have been used in the study of MYH9 function. A conditional knockout mouse line, called Myh9tm1a(EUCOMM)Wtsi[12][13] 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.[14][15][16]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty six tests were carried out on mutant mice and two significant abnormalities were observed.[10] 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; no additional significant abnormalities were observed in these animals.[10]
Interactions
MYH9 has been shown to interact with PRKCE.[18]
See also
- May Hegglin anomaly
References
- ↑ Simons M, Wang M, McBride OW, Kawamoto S, Yamakawa K, Gdula D, Adelstein RS, Weir L (August 1991). "Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes". Circulation research 69 (2): 530–9. doi:10.1161/01.res.69.2.530. PMID 1860190.
- ↑ Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Castelein CM, Mhatre AN (November 2000). "Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9". American Journal of Human Genetics 67 (5): 1121–8. doi:10.1016/S0002-9297(07)62942-5. PMC 1288554. PMID 11023810.
- ↑ Kopp JB, Smith MW, Nelson GW, Johnson RC, Freedman BI, Bowden DW, Oleksyk T, McKenzie LM, Kajiyama H, Ahuja TS, Berns JS, Briggs W, Cho ME, Dart RA, Kimmel PL, Korbet SM, Michel DM, Mokrzycki MH, Schelling JR, Simon E, Trachtman H, Vlahov D, Winkler CA (October 2008). "MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis". Nature Genetics 40 (10): 1175–84. doi:10.1038/ng.226. PMC 2827354. PMID 18794856.
- ↑ Kao WH, Klag MJ, Meoni LA, Reich D, Berthier-Schaad Y, Li M, Coresh J, Patterson N, Tandon A, Powe NR, Fink NE, Sadler JH, Weir MR, Abboud HE, Adler SG, Divers J, Iyengar SK, Freedman BI, Kimmel PL, Knowler WC, Kohn OF, Kramp K, Leehey DJ, Nicholas SB, Pahl MV, Schelling JR, Sedor JR, Thornley-Brown D, Winkler CA, Smith MW, Parekh RS; Family Investigation of Nephropathy and Diabetes Research Group (October 2008). "MYH9 is associated with nondiabetic end-stage renal disease in African Americans". Nature Genetics 40 (10): 1185–92. doi:10.1038/ng.232. PMC 2614692. PMID 18794854.
- ↑ Behar DM, Rosset S, Tzur S, Selig S, Yudkovsky G, Bercovici S, Kopp JB, Winkler CA, Nelson GW, Wasser WG, Skorecki K. (2010). "African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans.". Hum Mol Genet. 19 (9): 1816–27. doi:10.1093/hmg/ddq040. PMC 2850615. PMID 20144966.
- ↑ Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR. (July 2010). "Association of Trypanolytic ApoL1 Variants with Kidney Disease in African-Americans". Science 329 (5993): 841–5. doi:10.1126/science.1193032. PMC 2980843. PMID 20647424.
- ↑ Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, Bekele E, Bradman N, Wasser WG, Behar DM, Skorecki K. (July 2010). "Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.". Human Genetics 128 (3): 345–50. doi:10.1007/s00439-010-0861-0. PMC 2921485. PMID 20635188.
- ↑ "Salmonella infection data for Myh9". Wellcome Trust Sanger Institute.
- ↑ "Citrobacter infection data for Myh9". Wellcome Trust Sanger Institute.
- ↑ 10.0 10.1 10.2 10.3 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".
- ↑ "Mouse Genome Informatics".
- ↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. 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.
- ↑ England, Karen; Ashford David; Kidd Daniel; Rumsby Martin (June 2002). "PKC epsilon is associated with myosin IIA and actin in fibroblasts". Cell. Signal. (England) 14 (6): 529–36. doi:10.1016/S0898-6568(01)00277-7. ISSN 0898-6568. PMID 11897493.
External links
Further reading
- Starr R, Offer G (1978). "The interaction of C-protein with heavy meromyosin and subfragment-2.". Biochem. J. 171 (3): 813–6. PMC 1184031. PMID 352343.
- Lee CL, Atassi MZ (1978). "Enzymic and immunochemical properties of lysozyme. Accurate definition of the antigenic site around the disulphide bridge 30-115 (site 3) by 'surface-simulation' synthesis.". Biochem. J. 167 (3): 571–81. PMC 1183703. PMID 603622.
- Tweed WA, Phua WT, Chong KY et al. (1992). "Large tidal volume ventilation improves pulmonary gas exchange during lower abdominal surgery in Trendelenburg's position.". Canadian Journal of Anesthesia 38 (8): 989–95. doi:10.1007/BF03008617. PMID 1752022.
- Simons M, Wang M, McBride OW et al. (1991). "Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes.". Circ. Res. 69 (2): 530–9. doi:10.1161/01.res.69.2.530. PMID 1860190.
- Toothaker LE, Gonzalez DA, Tung N et al. (1991). "Cellular myosin heavy chain in human leukocytes: isolation of 5' cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation.". Blood 78 (7): 1826–33. PMID 1912569.
- Saez CG, Myers JC, Shows TB, Leinwand LA (1990). "Human nonmuscle myosin heavy chain mRNA: generation of diversity through alternative polyadenylylation.". Proc. Natl. Acad. Sci. U.S.A. 87 (3): 1164–8. doi:10.1073/pnas.87.3.1164. PMC 53431. PMID 1967836.
- Moos C, Feng IN (1980). "Effect of C-protein on actomyosin ATPase.". Biochim. Biophys. Acta 632 (2): 141–9. doi:10.1016/0304-4165(80)90071-9. PMID 6448079.
- Obermann WM, Plessmann U, Weber K, Fürst DO (1995). "Purification and biochemical characterization of myomesin, a myosin-binding and titin-binding protein, from bovine skeletal muscle.". Eur. J. Biochem. 233 (1): 110–5. doi:10.1111/j.1432-1033.1995.110_1.x. PMID 7588733.
- Maupin P, Phillips CL, Adelstein RS, Pollard TD (1995). "Differential localization of myosin-II isozymes in human cultured cells and blood cells.". J. Cell. Sci. 107 (11): 3077–90. PMID 7699007.
- Bement WM, Hasson T, Wirth JA et al. (1994). "Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types.". Proc. Natl. Acad. Sci. U.S.A. 91 (14): 6549–53. doi:10.1073/pnas.91.14.6549. PMC 44240. PMID 8022818.
- Eilertsen KJ, Kazmierski ST, Keller TC (1994). "Cellular titin localization in stress fibers and interaction with myosin II filaments in vitro.". J. Cell Biol. 126 (5): 1201–10. doi:10.1083/jcb.126.5.1201. PMC 2120159. PMID 8063857.
- Shoeman RL, Sachse C, Höner B et al. (1993). "Cleavage of human and mouse cytoskeletal and sarcomeric proteins by human immunodeficiency virus type 1 protease. Actin, desmin, myosin, and tropomyosin.". Am. J. Pathol. 142 (1): 221–30. PMC 1886840. PMID 8424456.
- Lalwani AK, Linthicum FH, Wilcox ER et al. (1998). "A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration.". Audiol. Neurootol. 2 (3): 139–54. doi:10.1159/000259237. PMID 9390828.
- Ford HL, Silver DL, Kachar B et al. (1998). "Effect of Mts1 on the structure and activity of nonmuscle myosin II.". Biochemistry 36 (51): 16321–7. doi:10.1021/bi971182l. PMID 9405067.
- Obermann WM, van der Ven PF, Steiner F et al. (1998). "Mapping of a myosin-binding domain and a regulatory phosphorylation site in M-protein, a structural protein of the sarcomeric M band.". Mol. Biol. Cell 9 (4): 829–40. doi:10.1091/mbc.9.4.829. PMC 25310. PMID 9529381.
- Dunham I, Shimizu N, Roe BA et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
- Miyamoto CA, Fischman DA, Reinach FC (2000). "The interface between MyBP-C and myosin: site-directed mutagenesis of the CX myosin-binding domain of MyBP-C.". J. Muscle Res. Cell. Motil. 20 (7): 703–15. doi:10.1023/A:1005513312939. PMID 10672519.
- Sajid M, Hu Z, Lele M, Stouffer GA (2000). "Protein complexes involving alpha v beta 3 integrins, nonmuscle myosin heavy chain-A, and focal adhesion kinase from in thrombospondin-treated smooth muscle cells.". J. Investig. Med. 48 (3): 190–7. PMID 10822899.
- Husi H, Ward MA, Choudhary JS et al. (2000). "Proteomic analysis of NMDA receptor-adhesion protein signaling complexes.". Nat. Neurosci. 3 (7): 661–9. doi:10.1038/76615. PMID 10862698.
- Kelley MJ, Jawien W, Lin A et al. (2000). "Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13.". Hum. Genet. 106 (5): 557–64. doi:10.1007/s004390050025. PMID 10914687.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.