MYH9

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Myosin, heavy chain 9, non-muscle
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MYH9 ; BDPLT6; DFNA17; EPSTS; FTNS; MHA; NMHC-II-A; NMMHC-IIA; NMMHCA
External IDs OMIM160775 MGI107717 HomoloGene129835 GeneCards: MYH9 Gene
RNA expression pattern
PBB GE MYH9 211926 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4627 17886
Ensembl ENSG00000100345 ENSMUSG00000022443
UniProt P35579 Q8VDD5
RefSeq (mRNA) NM_002473 NM_022410
RefSeq (protein) NP_002464 NP_071855
Location (UCSC) Chr 22:
36.68 – 36.78 Mb
Chr 15:
77.76 – 77.84 Mb
PubMed search [1] [2]

Myosin, heavy chain 9, non-muscle is a protein which in humans is encoded by the MYH9 gene.[1][2]

Clinical significance[edit]

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[edit]

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[edit]

MYH9 has been shown to interact with PRKCE.[18]

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ 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. 
  8. ^ "Salmonella infection data for Myh9". Wellcome Trust Sanger Institute. 
  9. ^ "Citrobacter infection data for Myh9". Wellcome Trust Sanger Institute. 
  10. ^ 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. 
  11. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  12. ^ "International Knockout Mouse Consortium". 
  13. ^ "Mouse Genome Informatics". 
  14. ^ 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.  edit
  15. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  16. ^ 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. 
  17. ^ 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. 
  18. ^ 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[edit]

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.