MYH9

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MYH9
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MYH9, BDPLT6, DFNA17, EPSTS, FTNS, MHA, NMHC-II-A, NMMHC-IIA, NMMHCA, myosin, heavy chain 9, non-muscle
External IDs MGI: 107717 HomoloGene: 129835 GeneCards: MYH9
RNA expression pattern
PBB GE MYH9 211926 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002473

NM_022410

RefSeq (protein)

NP_002464
NP_002464.1

NP_071855.2
NP_071855

Location (UCSC) Chr 22: 36.28 – 36.39 Mb Chr 15: 77.76 – 77.84 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Myosin, heavy chain 9, non-muscle is a protein which in humans is encoded by the MYH9 gene.[3][4]

Clinical significance[edit]

MYH9 polymorphisms have been shown to associate with glomerulosclerosis[5] and non-diabetic end stage renal disease[6] in African Americans and in Hispanic Americans,[7] though it was later shown that two independent variants in the nearby APOL1 gene were responsible for the increased risk of disease.[8][9]

Model organisms[edit]

Model organisms have been used in the study of MYH9 function. A conditional knockout mouse line, called Myh9tm1a(EUCOMM)Wtsi[14][15] 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.[16][17][18]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[12][19] Twenty six tests were carried out on mutant mice and two significant abnormalities were observed.[12] 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.[12]

Interactions[edit]

MYH9 has been shown to interact with PRKCE.[20]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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 1288554Freely accessible. PMID 11023810. 
  5. ^ 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 2827354Freely accessible. PMID 18794856. 
  6. ^ 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 (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 2614692Freely accessible. PMID 18794854. 
  7. ^ Behar DM, Rosset S, Tzur S, Selig S, Yudkovsky G, Bercovici S, Kopp JB, Winkler CA, Nelson GW, Wasser WG, Skorecki K (May 2010). "African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans". Human Molecular Genetics. 19 (9): 1816–27. doi:10.1093/hmg/ddq040. PMC 2850615Freely accessible. PMID 20144966. 
  8. ^ 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 (August 2010). "Association of trypanolytic ApoL1 variants with kidney disease in African Americans". Science. 329 (5993): 841–5. doi:10.1126/science.1193032. PMC 2980843Freely accessible. PMID 20647424. 
  9. ^ Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, Bekele E, Bradman N, Wasser WG, Behar DM, Skorecki K (September 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 2921485Freely accessible. PMID 20635188. 
  10. ^ "Salmonella infection data for Myh9". Wellcome Trust Sanger Institute. 
  11. ^ "Citrobacter infection data for Myh9". Wellcome Trust Sanger Institute. 
  12. ^ 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. 
  13. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  14. ^ "International Knockout Mouse Consortium". 
  15. ^ "Mouse Genome Informatics". 
  16. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750. 
  17. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  18. ^ 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. 
  19. ^ van der Weyden L, White JK, Adams DJ, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837Freely accessible. PMID 21722353. 
  20. ^ England K, Ashford D, Kidd D, Rumsby M (June 2002). "PKC epsilon is associated with myosin IIA and actin in fibroblasts". Cellular Signalling. 14 (6): 529–36. doi:10.1016/S0898-6568(01)00277-7. PMID 11897493. 

Further reading[edit]

External links[edit]

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