A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice

References

• Julie G, Hamdan FF, Rouleau GA. A strategy to identify de novo mutations in common disorders such as autism and schizophrenia. J Vis Exp 2011; 52:2534; PMID: 21712793
   PubMed Web of Science ®Google Scholar
• Gilissen C, Hoischen A, Brunner HG, Veltman JA. Unlocking Mendelian disease using exome sequencing. Genome Biol 2011; 12:228; http://dx.doi.org/10.1186/gb-2011-12-9-228; PMID: 21920049
   PubMed Web of Science ®Google Scholar
• Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, et al. A de novo paradigm for mental retardation. Nat Genet 2010; 42:1109 - 12; http://dx.doi.org/10.1038/ng.712; PMID: 21076407
   PubMed Web of Science ®Google Scholar
• O’Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011; 43:585 - 9; http://dx.doi.org/10.1038/ng.835; PMID: 21572417
   PubMed Web of Science ®Google Scholar
• van Bokhoven H. Genetic and epigenetic networks in intellectual disabilities. Annu Rev Genet 2011; 45:81 - 104; http://dx.doi.org/10.1146/annurev-genet-110410-132512; PMID: 21910631
   PubMed Web of Science ®Google Scholar
• Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, et al. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet 2012; 49:179 - 83; http://dx.doi.org/10.1136/jmedgenet-2011-100542; PMID: 22368300
   PubMed Web of Science ®Google Scholar
• de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012; 367:1921 - 9; http://dx.doi.org/10.1056/NEJMoa1206524; PMID: 23033978
   PubMed Web of Science ®Google Scholar
• Vicente-Manzanares M, Ma X, Adelstein RS, Horwitz AR. Non-muscle myosin II takes centre stage in cell adhesion and migration. Nat Rev Mol Cell Biol 2009; 10:778 - 90; http://dx.doi.org/10.1038/nrm2786; PMID: 19851336
   PubMed Web of Science ®Google Scholar
• Takeda K, Kishi H, Ma X, Yu ZX, Adelstein RS. Ablation and mutation of nonmuscle myosin heavy chain II-B results in a defect in cardiac myocyte cytokinesis. Circ Res 2003; 93:330 - 7; http://dx.doi.org/10.1161/01.RES.0000089256.00309.CB; PMID: 12893741
   PubMed Web of Science ®Google Scholar
• Lo CM, Buxton DB, Chua GC, Dembo M, Adelstein RS, Wang YL. Nonmuscle myosin IIb is involved in the guidance of fibroblast migration. Mol Biol Cell 2004; 15:982 - 9; http://dx.doi.org/10.1091/mbc.E03-06-0359; PMID: 14699073
   PubMed Web of Science ®Google Scholar
• Simons M, Wang M, McBride OW, Kawamoto S, Yamakawa K, Gdula D, Adelstein RS, Weir L. Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes. Circ Res 1991; 69:530 - 9; http://dx.doi.org/10.1161/01.RES.69.2.530; PMID: 1860190
   PubMed Web of Science ®Google Scholar
• Leal A, Endele S, Stengel C, Huehne K, Loetterle J, Barrantes R, Winterpacht A, Rautenstrauss B. A novel myosin heavy chain gene in human chromosome 19q13.3. Gene 2003; 312:165 - 71; http://dx.doi.org/10.1016/S0378-1119(03)00613-9; PMID: 12909352
   PubMed Web of Science ®Google Scholar
• Conti MA, Adelstein RS. Nonmuscle myosin II moves in new directions. J Cell Sci 2008; 121:11 - 8; http://dx.doi.org/10.1242/jcs.007112; PMID: 18096687
   PubMed Web of Science ®Google Scholar
• Wang A, Ma X, Conti MA, Liu C, Kawamoto S, Adelstein RS. Nonmuscle myosin II isoform and domain specificity during early mouse development. Proc Natl Acad Sci U S A 2010; 107:14645 - 50; http://dx.doi.org/10.1073/pnas.1004023107; PMID: 20679233
   PubMed Web of Science ®Google Scholar
• Bhatia-Dey N, Taira M, Conti MA, Nooruddin H, Adelstein RS. Differential expression of non-muscle myosin heavy chain genes during Xenopus embryogenesis. Mech Dev 1998; 78:33 - 6; http://dx.doi.org/10.1016/S0925-4773(98)00136-1; PMID: 9858676
   PubMed Web of Science ®Google Scholar
• Ma X, Kawamoto S, Hara Y, Adelstein RS. A point mutation in the motor domain of nonmuscle myosin II-B impairs migration of distinct groups of neurons. Mol Biol Cell 2004; 15:2568 - 79; http://dx.doi.org/10.1091/mbc.E03-11-0836; PMID: 15034141
   PubMed Web of Science ®Google Scholar
• Ma X, Kawamoto S, Uribe J, Adelstein RS. Function of the neuron-specific alternatively spliced isoforms of nonmuscle myosin II-B during mouse brain development. Mol Biol Cell 2006; 17:2138 - 49; http://dx.doi.org/10.1091/mbc.E05-10-0997; PMID: 16481398
   PubMed Web of Science ®Google Scholar
• Tullio AN, Accili D, Ferrans VJ, Yu ZX, Takeda K, Grinberg A, Westphal H, Preston YA, Adelstein RS. Nonmuscle myosin II-B is required for normal development of the mouse heart. Proc Natl Acad Sci U S A 1997; 94:12407 - 12; http://dx.doi.org/10.1073/pnas.94.23.12407; PMID: 9356462
   PubMed Web of Science ®Google Scholar
• Tullio AN, Bridgman PC, Tresser NJ, Chan CC, Conti MA, Adelstein RS, Hara Y. Structural abnormalities develop in the brain after ablation of the gene encoding nonmuscle myosin II-B heavy chain. J Comp Neurol 2001; 433:62 - 74; http://dx.doi.org/10.1002/cne.1125; PMID: 11283949
   PubMed Web of Science ®Google Scholar
• Ma X, Bao J, Adelstein RS. Loss of cell adhesion causes hydrocephalus in nonmuscle myosin II-B-ablated and mutated mice. Mol Biol Cell 2007; 18:2305 - 12; http://dx.doi.org/10.1091/mbc.E07-01-0073; PMID: 17429076
   PubMed Web of Science ®Google Scholar
• Kelley MJ, Jawien W, Ortel TL, Korczak JF. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 2000; 26:106 - 8; http://dx.doi.org/10.1038/79069; PMID: 10973260
   PubMed Web of Science ®Google Scholar
• Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, et al. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 2003; 82:203 - 15; http://dx.doi.org/10.1097/01.md.0000076006.64510.5c; PMID: 12792306
   PubMed Web of Science ®Google Scholar
• Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 2001; 69:1033 - 45; http://dx.doi.org/10.1086/324267; PMID: 11590545
   PubMed Web of Science ®Google Scholar
• Zhang Y, Conti MA, Malide D, Dong F, Wang A, Shmist YA, Liu C, Zerfas P, Daniels MP, Chan CC, et al. Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. Blood 2012; 119:238 - 50; http://dx.doi.org/10.1182/blood-2011-06-358853; PMID: 21908426
   PubMed Web of Science ®Google Scholar
• De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, et al. MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. Eur J Med Genet 2013; 56:7 - 12; http://dx.doi.org/10.1016/j.ejmg.2012.10.009; PMID: 23123319
   PubMed Web of Science ®Google Scholar
• Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, et al. Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet 2004; 74:770 - 6; http://dx.doi.org/10.1086/383285; PMID: 15015131
   PubMed Web of Science ®Google Scholar
• Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, et al. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. Hum Mutat 2011; 32:669 - 77; http://dx.doi.org/10.1002/humu.21488; PMID: 21480433
   PubMed Web of Science ®Google Scholar
• Golomb E, Ma X, Jana SS, Preston YA, Kawamoto S, Shoham NG, Goldin E, Conti MA, Sellers JR, Adelstein RS. Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family. J Biol Chem 2004; 279:2800 - 8; http://dx.doi.org/10.1074/jbc.M309981200; PMID: 14594953
   PubMed Web of Science ®Google Scholar
• Conti MA, Even-Ram S, Liu C, Yamada KM, Adelstein RS. Defects in cell adhesion and the visceral endoderm following ablation of nonmuscle myosin heavy chain II-A in mice. J Biol Chem 2004; 279:41263 - 6; http://dx.doi.org/10.1074/jbc.C400352200; PMID: 15292239
   PubMed Web of Science ®Google Scholar
• Franke JD, Dong F, Rickoll WL, Kelley MJ, Kiehart DP. Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. Blood 2005; 105:161 - 9; http://dx.doi.org/10.1182/blood-2004-06-2067; PMID: 15339844
   PubMed Web of Science ®Google Scholar