Aldh7a1 regulates eye and limb development in zebrafish

PLoS ONE

Volumn 9, Issue 7, 2014, Pages

  Babcock, Holly E ^a   Dutta, Sunit ^a   Alur, Ramakrishna P ^a   Brocker, Chad ^b   Vasiliou, Vasilis ^b   Vitale, Susan ^a   Abu Asab, Mones ^a   Brooks, Brian P ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; RETINOIC ACID; ALDEHYDE DEHYDROGENASE; DNA BINDING PROTEIN; NOZ1 PROTEIN, ZEBRAFISH; ZEBRAFISH PROTEIN;

ALDH7A1 GENE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL COUNT; CELL CYCLE M PHASE; CELL PROLIFERATION; COLOBOMA; CONTROLLED STUDY; DEVELOPMENTAL STAGE; EMBRYO DEVELOPMENT; EYE DEVELOPMENT; GENE; GENE EXPRESSION; GENE FUNCTION; LIMB DEVELOPMENT; NLZ1 GENE; NONHUMAN; NUCLEOTIDE SEQUENCE; OPTIC DISK CUP; PHENOTYPE; UVEA COLOBOMA; ZEBRA FISH; ANIMAL; ANIMAL EMBRYO; EMBRYOLOGY; EYE; GENE EXPRESSION REGULATION; GENE SILENCING; GENETICS; LIMB; METABOLISM;

ALDEHYDE DEHYDROGENASE; ANIMALS; CELL PROLIFERATION; DNA-BINDING PROTEINS; EMBRYO, NONMAMMALIAN; EMBRYONIC DEVELOPMENT; EXTREMITIES; EYE; GENE EXPRESSION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE KNOCKDOWN TECHNIQUES; PHENOTYPE; TRETINOIN; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84904015555     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0101782     Document Type: Article

References (44)

1. Chang L, Blain D, Bertuzzi S, Brooks BP (2006) Uveal coloboma: clinical and basic science update. Curr Opin Ophthalmol 17: 447-470. (Pubitemid 44319039)
2. Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K (2004) Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet 41: 881-891. (Pubitemid 40007248)
3. Bermejo E, Martinez-Frias ML (1998) Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 75: 497-504. (Pubitemid 28078521)
4. Hornby SJ, Gilbert CE, Rahi JK, Sil AK, Xiao Y, et al. (2000) Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma. Ophthalmic Epidemiol 7: 127-138. (Pubitemid 30495377)
5. Nakamura KM, Diehl NN, Mohney BG (2011) Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study. Arch Ophthalmol 129: 69-74.
6. Maumenee IH, Mitchell TN (1990) Colobomatous malformations of the eye. Trans Am Ophthalmol Soc 88: 123-132; discussion 133-125.
7. Zlotogora J, Legum C, Raz J, Merin S, BenEzra D (1994) Autosomal recessive colobomatous microphthalmia. Am J Med Genet 49: 261-262. (Pubitemid 24041997)
8. Pagon RA, Kalina RE, Lechner DJ (1981) Possible autosomal-recessive ocular coloboma. Am J Med Genet 9: 189-193. (Pubitemid 11039886)
9. Lehman DM, Sponsel WE, Stratton RF, Mensah J, Macdonald JC, et al. (2001) Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. Am J Med Genet 101: 114-119. (Pubitemid 32520711)
10. Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, et al. (2002) National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet 39: 16-22. (Pubitemid 34093600)
11. Brooks BP (2013) Anophthalmia, Microphthalmia and Uveal Coloboma. In: Rimoin DL, Pyeritz RE, Korf BR, editors. Emery and Rimoin's Principles and Practice of Medical Genetics. 6th edition ed: Academic Press. pp. 3952-3966.
12. Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, et al. (2010) Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. Br J Ophthalmol 94: 1100-1104.
13. Zhang X, Li S, Xiao X, Jia X, Wang P, et al. (2009) Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. Mol Vis 15: 2911-2918.
14. Marchitti SA, Brocker C, Stagos D, Vasiliou V (2008) Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily. Expert Opin Drug Metab Toxicol 4: 697-720. (Pubitemid 352003194)
15. Matt N, Dupe V, Garnier JM, Dennefeld C, Chambon P, et al. (2005) Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells. Development 132: 4789-4800. (Pubitemid 41685288)
16. Dupe V, Matt N, Garnier JM, Chambon P, Mark M, et al. (2003) A newborn lethal defect due to inactivation of retinaldehyde dehydrogenase type 3 is prevented by maternal retinoic acid treatment. Proceedings of the National Academy of Sciences of the United States of America 100: 14036-14041. (Pubitemid 37499186)
17. Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, et al. (2013) ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet 92: 265-270.
18. Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, et al. (2013) ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. Hum Mol Genet 22: 3250-3258.
19. Brocker C, Lassen N, Estey T, Pappa A, Cantore M, et al. (2010) Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress. J Biol Chem 285: 18452-18463.
20. Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, et al. (2010) Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain: a journal of neurology 133: 2148-2159.
21. Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, et al. (2006) Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 12: 307-309. (Pubitemid 43355078)
22. Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr (2009) Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia 50: 1167-1175.
23. Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, et al. (2009) Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol 65: 550-556.
24. Scharer G, Brocker C, Vasiliou V, Creadon-Swindell G, Gallagher RC, et al. (2010) The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis 33: 571-581.
25. Brown JD, Dutta S, Bharti K, Bonner RF, Munson PJ, et al. (2009) Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure. Proc Natl Acad Sci U S A 106: 1462-1467.
26. Molotkov A, Molotkova N, Duester G (2006) Retinoic acid guides eye morphogenetic movements via paracrine signaling but is unnecessary for retinal dorsoventral patterning. Development 133: 1901-1910. (Pubitemid 43881256)
27. Marsh-Armstrong N, McCaffery P, Gilbert W, Dowling JE, Drager UC (1994) Retinoic acid is necessary for development of the ventral retina in zebrafish. Proc Natl Acad Sci U S A 91: 7286-7290. (Pubitemid 24226848)
28. Lupo G, Gestri G, O'Brien M, Denton RM, Chandraratna RA, et al. (2011) Retinoic acid receptor signaling regulates choroid fissure closure through independent mechanisms in the ventral optic cup and periocular mesenchyme. Proc Natl Acad Sci U S A 108: 8698-8703.
29. Brocker C, Cantore M, Failli P, Vasiliou V (2011) Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity. Chem Biol Interact 191: 269-277.
30. Chan CL, Wong JW, Wong CP, Chan MK, Fong WP (2011) Human antiquitin: structural and functional studies. Chem Biol Interact 191: 165-170.
31. Guo Y, Tan LJ, Lei SF, Yang TL, Chen XD, et al. (2010) Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis. PLoS Genet 6: e1000806.
32. van den Hoogen C, van der Horst G, Cheung H, Buijs JT, Pelger RC, et al. (2011) The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis. Clin Exp Metastasis 28: 615-625.
33. Balow SA, Pierce LX, Zentner GE, Conrad PA, Davis S, et al. (2013) Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome. Developmental Biology 382: 57-69.
34. French CR, Stach TR, March LD, Lehmann OJ, Waskiewicz AJ (2013) Apoptotic and proliferative defects characterize ocular development in a microphthalmic BMP model. Invest Ophthalmol Vis Sci 54: 4636-4647.
35. Slorach EM, Chou J, Werb Z (2011) Zeppo1 is a novel metastasis promoter that represses E-cadherin expression and regulates p120-catenin isoform expression and localization. Genes Dev 25: 471-484.
36. Liu M, Liu Y, Lupo G, Lan L, Barsacchi G, et al. (2008) A role for Xvax2 in controlling proliferation of Xenopus ventral eye and brain progenitors. Dev Dyn 237: 3387-3393.
37. Tang WK, Chan CB, Cheng CH, Fong WP (2005) Seabream antiquitin: molecular cloning, tissue distribution, subcellular localization and functional expression. FEBS Lett 579: 3759-3764. (Pubitemid 40897721)
38. Westerfield M (2000) The zebrafish book; A Guide for the Laboratory Use of Zebrafish (Danio rerio). Eugene,OR: University of Oregon Press.
39. Thisse C, Thisse B (2008) High-resolution in situ hybridization to whole-mount zebrafish embryos. Nat Protoc 3: 59-69.
40. Take-uchi M, Clarke JD, Wilson SW (2003) Hedgehog signalling maintains the optic stalk-retinal interface through the regulation of Vax gene activity. Development 130: 955-968. (Pubitemid 36367513)
41. Krauss S, Johansen T, Korzh V, Fjose A (1991) Expression of the zebrafish paired box gene pax[zf-b] during early neurogenesis. Development 113: 1193-1206.
42. Turner DL, Weintraub H (1994) Expression of achaete-scute homolog 3 in Xenopus embryos converts ectodermal cells to a neural fate. Genes Dev 8: 1434-1447. (Pubitemid 24189810)
43. Neuhauss SC, Solnica-Krezel L, Schier AF, Zwartkruis F, Stemple DL, et al. (1996) Mutations affecting craniofacial development in zebrafish. Development 123: 357-367. (Pubitemid 27056762)
44. Hyatt GA, Schmitt EA, Marsh-Armstrong NR, Dowling JE (1992) Retinoic acid-induced duplication of the zebrafish retina. Proc Natl Acad Sci U S A 89: 8293-8297.