Analysis of FOXD3 sequence variation in human ocular disease

Molecular Vision

Volumn 18, Issue , 2012, Pages 1740-1749

  Kloss, Bethany A Volkmann ^a,b   Reis, Linda M ^a   Brémond Gignac, Dominique ^c   Glaser, Tom ^d   Semina, Elena V ^a,b  

^a Children's Hospital of Wisconsin   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c AMIENS UNIVERSITY HOSPITAL   (France)

^d UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; DNA BINDING PROTEIN; HISTIDINE; LEUCINE; PROLINE;

ANIRIDIA; ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; EYE DISEASE; FORKHEAD BOX D3 GENE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NEURAL CREST CELL; PETERS ANOMALY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; RESIDUE ANALYSIS; RISK ASSESSMENT; SEQUENCE ANALYSIS;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; ANIRIDIA; ANOPHTHALMOS; ANTERIOR EYE SEGMENT; CATARACT; CONSERVED SEQUENCE; CORNEAL OPACITY; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FORKHEAD TRANSCRIPTION FACTORS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; GLAUCOMA; HUMANS; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84864305831     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (47)

1. Sowden JC. Molecular and developmental mechanisms of anterior segment dysgenesis. Eye (Lond) 2007; 21:1310-8. [PMID: 17914434]
2. Creuzet S, Vincent C, Couly G. Neural crest derivatives in ocular and periocular structures. Int J Dev Biol 2005; 49:161-71. [PMID: 15906229]
3. Cvekl A, Tamm ER. Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases. Bioessays 2004; 26:374-86. [PMID: 15057935]Review
4. Gould DB, Smith RS, John SW. Anterior segment development relevant to glaucoma. Int J Dev Biol 2004; 48:1015-29. [PMID: 15558492]
5. Idrees F, Vaideanu D, Fraser SG, Sowden JC, Khaw PT. A review of anterior segment dysgeneses. Surv Ophthalmol 2006; 51:213-31. [PMID: 16644364]
6. Barembaum M, Bronner-Fraser M. Early steps in neural crest specification. Semin Cell Dev Biol 2005; 16:642-6. [PMID: 16039882]
7. OMIM® - Online Mendelian Inheritance in Man (URL: http://www.ncbi.nlm.nih.gov/omim) [accessed January 2012]
8. Hanna LA, Foreman RK, Tarasenko IA, Kessler DS, Labosky PA. Requirement for Foxd3 in maintaining pluripotent cells of the early mouse embryo. Genes Dev 2002; 16:2650-61. [PMID: 12381664]
9. Dottori M, Gross MK, Labosky P, Goulding M. The wingedhelix transcription factor Foxd3 suppresses interneuron differentiation and promotes neural crest cell fate. Development 2001; 128:4127-38. [PMID: 11684651]
10. Teng L, Mundell NA, Frist AY, Wang Q, Labosky PA. Requirement for Foxd3 in the maintenance of neural crest progenitors. Development 2008; 135:1615-24. [PMID: 18367558]
11. Odenthal J, Nüsslein-Volhard C. fork head domain genes in zebrafish. Dev Genes Evol 1998; 208:245-58. [PMID: 9683740]
12. Kelsh RN, Dutton K, Medlin J, Eisen JS. Expression of zebrafish fkd6 in neural crest-derived glia. Mech Dev 2000; 93:161-4. [PMID: 10781949]
13. Montero-Balaguer M, Lang MR, Sachdev SW, Knappmeyer C, Stewart RA, De La Guardia A, Hatzopoulos AK, Knapik EW. The mother superior mutation ablates foxd3 activity in neural crest progenitor cells and depletes neural crest derivatives in zebrafish. Dev Dyn 2006; 235:3199-212. [PMID: 17013879]
14. Stewart RA, Arduini BL, Berghmans S, George RE, Kanki JP, Henion PD, Look AT. Zebrafish foxd3 is selectively required for neural crest specification, migration and survival. Dev Biol 2006; 292:174-88. [PMID: 16499899]
15. Lister JA, Cooper C, Nguyen K, Modrell M, Grant K, Raible DW. Zebrafish Foxd3 is required for development of a subset of neural crest derivatives. Dev Biol 2006; 290:92-104. [PMID: 16364284]
16. Curran K, Raible DW, Lister JA. Foxd3 controls melanophore specification in the zebrafish neural crest by regulation of Mitf. Dev Biol 2009; 332:408-17. [PMID: 19527705]
17. Curran K, Lister JA, Kunkel GR, Prendergast A, Parichy DM, Raible DW. Interplay between Foxd3 and Mitf regulates cell fate plasticity in the zebrafish neural crest. Dev Biol 2010; 344:107-18. [PMID: 20460180]
18. Pohl BS, Knöchel W. Overexpression of the transcriptional repressor FoxD3 prevents neural crest formation in Xenopus embryos. Mech Dev 2001; 103:93-106. [PMID: 11335115]
19. Xu D, Yoder M, Sutton J, Hromas R. Forced expression of Genesis, a winged helix transcriptional repressor isolated from embryonic stem cells, blocks granulocytic differentiation of 32D myeloid cells. Leukemia 1998; 12:207-12. [PMID: 9519783]
20. Kos R, Reedy MV, Johnson RL, Erickson CA. The wingedhelix transcription factor FoxD3 is important for establishing the neural crest lineage and repressing melanogenesis in avian embryos. Development 2001; 128:1467-79. [PMID: 11262245]
21. Alkhateeb A, Stetler GL, Old W, Talbert J, Uhlhorn C, Taylor M, Fox A, Miller C, Dills DG, Ridgway EC, Bennett DC, Fain PR, Spritz RA. Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2. Hum Mol Genet 2002; 11:661-7. [PMID: 11912181]
22. Alkhateeb A, Fain PR, Spritz RA. Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo. J Invest Dermatol 2005; 125:388-91. [PMID: 16098053]
23. Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet 2001; 10:231-6. [PMID: 11159941]
24. Brownell I, Dirksen M, Jamrich M. Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation. Genesis 2000; 27:81-93. [PMID: 10890982]
25. Ormestad M, Blixt A, Churchill A, Martinsson T, Enerbäck S, Carlsson P. Foxe3 haploinsufficiency in mice: a model for Peters' anomaly. Invest Ophthalmol Vis Sci 2002; 43:1350-7. [PMID: 11980846]
26. Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998; 19:140-7. [PMID: 9620769]
27. Saleem RA, Banerjee-Basu S, Berry FB, Baxevanis AD, Walter MA. Analyses of the effects that disease-causing missense mutations have on the structure and function of the wingedhelixprotein FOXC1. Am J Hum Genet 2001; 68:627-41. [PMID: 11179011]
28. Exome Variant Server. NHLBI Exome Sequencing Project (ESP), Seattle, WA (URL: http://evs.gs.washington.edu/EVS/) [accessed January 2012]
29. Single Nucleotide Polymorphism database (dbSNP) (URL: http://www.ncbi.nlm.nih.gov/snp) [accessed January 2012]
30. Microsoft Computational Biology Web Tools. (URL: http://research.microsoft.com/en-us/um/redmond/projects/mscompbio/FisherExactTest/) [accessed February 2012]
31. Kokotas H, Petersen MB. Clinical and molecular aspects of aniridia. Clin Genet 2010; 77:409-20. [PMID: 20132240]
32. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet 1992; 2:232-9. [PMID: 1345175]
33. Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV. Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A 2008; 146A: 2603-10. [PMID: 18798333]
34. Brémond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV. Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. Mol Vis 2010; 16:1705-11. [PMID: 20806047]
35. Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV. FOXE3 plays a significant role in autosomal recessive microphthalmia. Am J Med Genet A 2010; 152A:582-90. [PMID: 20140963]
36. Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bosenko DV, Reis LM, Broeckel U, Link BA, Semina EV. Potential Novel Mechanism for Axenfeld-Rieger Syndrome: Deletion of a Distant Region Containing Regulatory Elements of PITX2. Invest Ophthalmol Vis Sci 2011; 52:1450-9. [PMID: 20881290]
37. Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV. PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet. 2012 [PMID: 20881290]
38. Peters A. Uber angeborene Defektbildung des Descemet' schen Membran. Klin Mbl Augenheilk 1906; 44:27-40.
39. Heon E, Barsoum-Homsy M, Cevrette L, Jacob JL, Milot J, Polemeno R, Musarella MA. Peters' anomaly: The spectrum of associated ocular and systemic malformations. Ophthalmic Paediatr Genet 1992; 13:137-43. [PMID: 1495764]
40. Lee H, Khan R, O'Keefe M. Aniridia: current pathology and management. Acta Ophthalmol 2008; 86:708-15. [PMID: 18937825]
41. Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Clin Genet 2011; 79:158-68. [PMID: 20486942]
42. Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet 2011; 130:495-504. [PMID: 21340693]
43. Jin C, Marsden I, Chen X, Liao X. Dynamic DNA contacts observed in the NMR structure of winged helix protein-DNA complex. J Mol Biol 1999; 289:683-90. [PMID: 10369754]
44. Marsden I, Chen Y, Jin C, Liao X. Evidence that the DNA binding specificity of winged helix proteins is mediated by a structural change in the amino acid sequence adjacent to the principal DNA binding helix. Biochemistry 1997; 36:13248-55. [PMID: 9341214]
45. Marsden I, Jin C, Liao X. Structural changes in the region directly adjacent to the DNA-binding helix highlight a possible mechanism to explain the observed changes in the sequence-specific binding of winged helix proteins. J Mol Biol 1998; 278:293-9. [PMID: 9571051]
46. Obsil T, Obsilova V. Structure/function relationships underlying regulation of FOXO transcription factors. Oncogene 2008; 27:2263-75. [PMID: 18391969]
47. Clark KL, Halay ED, Lai E, Burley SK. Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5. Nature 1993; 364:412-20. [PMID: 8332212]