Studies Hybridoma Bank, developed under the auspices of the National Institute of Child Health and Human Development, and maintained by the University of Iowa, Department of Biological Sciences (Iowa City, IA). References 1. Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, et al. (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36: 955–957. 2. Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, et al. (2006) Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr 148: 410–414. 3. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, et al. (2006) Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 78: 303–314. 4. Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clement-Ziza M, et al. (2006) Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 43: 211–217. 5. Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, et al. (2006) CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 43: 306–314. 6. Lalani SR, Safiullah AM, Fernbach SD, Phillips M, Bacino CA, et al. (2005) SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet 6: 8. 7. Wincent J, Schulze A, Schoumans J (2009) Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. Eur J Med Genet 52: 271–272. 8. Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Poyhonen M, et al. (2007) Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Genet Med 9: 690–694. 9. Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, et al. (2010) Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome. Eur J Med Genet 53: 280–285. 10. Carey JC (2005) CHARGE syndrome: 2005. Am J Med Genet A 133A: 227. 11. Blake KD, Prasad C (2006) CHARGE syndrome. Orphanet J Rare Dis 1: 34. 12. Marfella CG, Imbalzano AN (2007) The Chd family of chromatin remodelers. Mutat Res 618: 30–40. 13. Allen MD, Religa TL, Freund SM, Bycroft M (2007) Solution structure of the BRK domains from CHD7. J Mol Biol 371: 1135–1140. 14. Schnetz MP, Bartels CF, Shastri K, Balasubramanian D, Zentner GE, et al. (2009) Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. Genome Res 19: 590–601. 15. Srinivasan S, Dorighi KM, Tamkun JW (2008) Drosophila Kismet regulates histone H3 lysine 27 methylation and early elongation by RNA polymerase II. PLoS Genet 4: e1000217. 16. Takada I, Mihara M, Suzawa M, Ohtake F, Kobayashi S, et al. (2007) A histone lysine methyltransferase activated by non-canonical Wnt signalling suppresses PPAR-gamma transactivation. Nat Cell Biol 9: 1273–1285. 17. Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, et al. (2010) CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature 463: 958–962. 18. Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, et al. (2005) Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum Mol Genet 14: 3463–3476. 19. Jacobs-McDaniels NL, Albertson RC (2011) Chd7 plays a critical role in controlling left-right symmetry during zebrafish somitogenesis. Dev Dyn 240: 2272–2280. 20. Gao X, Gordon D, Zhang D, Browne R, Helms C, et al. (2007) CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. Am J Hum Genet 80: 957–965. 21. Gregory CA, Gunn WG, Peister A, Prockop DJ (2004) An Alizarin red-based assay of mineralization by adherent cells in culture: comparison with cetylpyridinium chloride extraction. Anal Biochem 329: 77–84. 22. Nasevicius A, Ekker SC (2000) Effective targeted gene ‘knockdown’ in zebrafish. Nat Genet 26: 216–220. 23. Takahashi Y, Koizumi K, Takagi A, Kitajima S, Inoue T, et al. (2000) Mesp2 initiates somite segmentation through the Notch signalling pathway. Nat Genet 25: 390–396. 24. Koizumi K, Nakajima M, Yuasa S, Saga Y, Sakai T, et al. (2001) The role of presenilin 1 during somite segmentation. Development 128: 1391–1402. 25. Shaw KM, Castranova DA, Pham VN, Kamei M, Kidd KR, et al. (2006) fused- somites-like mutants exhibit defects in trunk vessel patterning. Dev Dyn 235: 1753–1760. 26. Childs S, Chen JN, Garrity DM, Fishman MC (2002) Patterning of angiogenesis in the zebrafish embryo. Development 129: 973–982. 27. Hurd EA, Poucher HK, Cheng K, Raphael Y, Martin DM (2010) The ATP- dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear. Development 137: 3139–3150. Role of Chd7 in Developing Zebrafish Author Contributions Conceived and designed the experiments: SP NJM RCA FM. Performed the experiments: SP NJM CZ. Analyzed the data: SP NJM. Contributed reagents/materials/analysis tools: PD FM RCA. Wrote the paper: SP NJM. Read and edited the manuscript: SP NJM FM PD RCA. 28. Aramaki M, Kimura T, Udaka T, Kosaki R, Mitsuhashi T, et al. (2007) Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome. Birth Defects Res A Clin Mol Teratol 79: 50–57. 29. Melicharek DJ, Ramirez LC, Singh S, Thompson R, Marenda DR (2010) Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome. Hum Mol Genet 19: 4253–4264. 30. Christiansen HE, Lang MR, Pace JM, Parichy DM (2009) Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth. PLoS One 4: e8481. 31. Smith A, Avaron F, Guay D, Padhi BK, Akimenko MA (2006) Inhibition of BMP signaling during zebrafish fin regeneration disrupts fin growth and scleroblasts differentiation and function. Dev Biol 299: 438–454. 32. Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, et al. (2009) Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet 18: 1909–1923. 33. Akisu M, Ozkinay F, Ozyurek R, Kucuktas A, Kultursay N (1998) The CHARGE association in a newborn infant. Turk J Pediatr 40: 283–287. 34. Ben Becher S, Ganouni S, Cheour M, Bouaziz A, Boudhina T (1994) [CHARGE association]. Arch Pediatr 1: 1115–1117. 35. Van Meter TD, Weaver DD (1996) Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mecha- nism. Clin Dysmorphol 5: 187–196. 36. Larison KD, Bremiller R (1990) Early onset of phenotype and cell patterning in the embryonic zebrafish retina. Development 109: 567–576. 37. Link BA, Fadool JM, Malicki J, Dowling JE (2000) The zebrafish young mutation acts non-cell-autonomously to uncouple differentiation from specifi- cation for all retinal cells. Development 127: 2177–2188. 38. Masai I, Lele Z, Yamaguchi M, Komori A, Nakata A, et al. (2003) N-cadherin mediates retinal lamination, maintenance of forebrain compartments and patterning of retinal neurites. Development 130: 2479–2494. 39. Erdmann B, Kirsch FP, Rathjen FG, More MI (2003) N-cadherin is essential for retinal lamination in the zebrafish. Dev Dyn 226: 570–577. 40. Schmitt EA, Dowling JE (1999) Early retinal development in the zebrafish, Danio rerio: light and electron microscopic analyses. J Comp Neurol 404: 515–536. 41. Melicharek D, Shah A, DiStefano G, Gangemi AJ, Orapallo A, et al. (2008) Identification of novel regulators of atonal expression in the developing Drosophila retina. Genetics 180: 2095–2110. 42. Jarman AP, Sun Y, Jan LY, Jan YN (1995) Role of the proneural gene, atonal, in formation of Drosophila chordotonal organs and photoreceptors. Development 121: 2019–2030. 43. Yokoi H, Yan YL, Miller MR, BreMiller RA, Catchen JM, et al. (2009) Expression profiling of zebrafish sox9 mutants reveals that Sox9 is required for retinal differentiation. Dev Biol 329: 1–15. 44. Lacombe D (1994) Facial palsy and cranial nerve abnormalities in CHARGE association. Am J Med Genet 49: 351–353. 45. Byerly KA, Pauli RM (1993) Cranial nerve abnormalities in CHARGE association. Am J Med Genet 45: 751–757. 46. Huang X, Saint-Jeannet JP (2004) Induction of the neural crest and the opportunities of life on the edge. Dev Biol 275: 1–11. 47. Grenier J, Teillet MA, Grifone R, Kelly RG, Duprez D (2009) Relationship between neural crest cells and cranial mesoderm during head muscle development. PLoS One 4: e4381. 48. Lwigale PY, Bronner-Fraser M (2009) Semaphorin3A/neuropilin-1 signaling acts as a molecular switch regulating neural crest migration during cornea development. Dev Biol 336: 257–265. 49. Knight RD, Schilling TF (2006) Cranial neural crest and development of the head skeleton. Adv Exp Med Biol 589: 120–133. 50. Amiel J, Attiee-Bitach T, Marianowski R, Cormier-Daire V, Abadie V, et al. (2001) Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am J Med Genet 99: 124–127. 51. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, et al. (1998) CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 37: 159–173. 52. Morgan D, Bailey M, Phelps P, Bellman S, Grace A, et al. (1993) Ear-nose- throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg 119: 49–54. 53. Abadie V, Wiener-Vacher S, Morisseau-Durand MP, Poree C, Amiel J, et al. (2000) Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development. Eur J Pediatr 159: 569–574. 54. Satar B, Mukherji SK, Telian SA (2003) Congenital aplasia of the semicircular canals. Otol Neurotol 24: 437–446. PLoS ONE | www.plosone.org 13 February 2012 | Volume 7 | Issue 2 | e31650