Differential expression profile prioritization of positional candidate glaucoma genes: The GLC1C locus

Archives of Ophthalmology

Volumn 125, Issue 1, 2007, Pages 117-127

  Rozsa, Frank W ^a   Scott, Kathleen M ^a   Pawar, Hemant ^a   Samples, John R ^c   Wirtz, Mary K ^c   Richards, Julia E ^a,b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COATOMER PROTEIN; DEXAMETHASONE; FIBRONECTIN BINDING PROTEIN; MEMBRANE PROTEIN; PROTEIN ATP1B3; PROTEIN COPB2; PROTEIN FNDC6; PROTEIN PCCB; PROTEIN SCLC25A36; PROTEIN TMEM22; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ZBTB38; UNCLASSIFIED DRUG;

ARTICLE; CELL CULTURE; CONTROLLED STUDY; GENE EXPRESSION; GLAUCOMA; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SIGNAL TRANSDUCTION; TRABECULAR MESHWORK;

ADOLESCENT; AGED; CELLS, CULTURED; CHILD; FEMALE; GENE EXPRESSION; GENE EXPRESSION PROFILING; GLAUCOMA, OPEN-ANGLE; HUMANS; MALE; MIDDLE AGED; MODELS, GENETIC; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION; TRABECULAR MESHWORK;

EID: 33846108276     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.125.1.117     Document Type: Article

References (52)

1. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol. 1996;80:389-393.
2. Gottfredsdottir MS, Sverrisson T, Musch DC, Stefansson E. Chronic open-angle glaucoma and associated ophthalmic findings in monozygotic twins and their spouses in Iceland. J Glaucoma. 1999;8:134-139.
3. Wiggs JL, Allingham RR, Hossain A, et al. Genome-wide scan for adult onset primary open angle glaucoma. Hum Mol Genet. 2000;9:1109-1117.
4. Nemesure B, Jiao X, He Q, et al; Barbados Family Study Group. A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. Hum Genet. 2003;112:600-609.
5. Sheffield VC, Stone EM, Alward WL, et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet. 1993;4:47-50.
6. Stoilova D, Child A, Trifan OC, Crick RP, Coakes RL, Sarfarazi M. Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics. 1996;36:142-150.
7. Wirtz MK, Samples JR, Kramer PL, et al. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. Am J Hum Genet. 1997;60:296-304.
8. Trifan OC, Traboulsi EI, Stoilova D, et al. A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am J Ophthalmol. 1998;126:17-28.
9. Sarfarazi M, Child A, Stoilova D, et al. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet. 1998;62:641-652.
10. Wirtz MK, Samples JR, Rust K, et al. GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol. 1999;117:237-241.
11. Monemi S, Spaeth G, DaSilva A, et al. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet. 2005;14:725-733.
12. Allingham RR, Wiggs JL, Hauser ER, et al. Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. Invest Ophthalmol Vis Sci. 2005;46:2002-2005.
13. Wiggs JL, Lynch S, Ynagi G, et al. A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12. Am J Hum Genet. 2004;74:1314-1320.
14. Baird PN, Foote SJ, Mackey DA, Craig J, Speed TP, Bureau A. Evidence for a novel glaucoma locus at chromosome 3p21-22. Hum Genet. 2005;117:249-257.
15. Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
16. Nguyen TD, Chen P, Huang WD, Chen H, Johnson D, Polansky JR. Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem. 1998;273:6341-6350.
17. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002;295:1077-1079.
18. Samples JR, Kitsos G, Economou-Petersen E, et al. Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis. Clin Genet. 2004;65:40-44.
19. Petersen MB, Kitsos G, Samples JR, et al. A Large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability. Invest Ophthalmol Vis Sci. 2006;47:620-625.
20. Kitsos G, Eiberg H, Economou-Petersen E, et al. Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree. Eur J Hum Genet. 2001;9:452-457.
21. Rozsa FW, Reed DM, Scott KM, et al. Gene expression profile of human trabecular meshwork cells in response to long-term dexamethasone exposure. Mol Vis. 2006;12:125-141.
22. Rebhan M, Chalifa-Caspi V, Prilusky J, Lancet D. GeneCards: encyclopedia for genes, proteins and diseases. http://www.genecards.org. Accessed June 2006.
23. Henderson PJ, Maiden MC. Homologous sugar transport proteins in Escherichia coli and their relatives in both prokaryotes and eukaryotes. Philos Trans R Soc Lond B Biol Sci. 1990;326:391-410.
24. Paulsen IT, Skurray RA, Tam R, et al. The SMR family: a novel family of multidrug efflux proteins involved with the efflux of lipophilic drugs. Mol Microbiol. 1996;19:1167-1175.
25. Marchler-Bauer A, Bryant SH. CD-Search: protein domain annotations on the fly. Nucleic Acids Res. 2004;32:W327-W331.
26. Marchler-Bauer A, Anderson JB, Cherukuri PF, et al. CDD: a Conserved Domain Database for protein classification. Nucleic Acids Res. 2005;33:D192-D196.
27. Malik N, Canfield V, Sanchez-Watts G, et al. Structural organization and chromosomal localization of the human Na,K-ATPase beta-3 subunit gene and pseudogene. Mamm Genome. 1998;9:136-143.
28. Putney LK, Vibat CR, O'Donnell ME. Intracellular Cl regulates Na-K-Cl cotransport activity in human trabecular meshwork cells. Am J Physiol. 1999;277:C373-C383.
29. Mitchell CH, Fleischhauer JC, Stamer WD, Peterson-Yantorno K, Civan MM. Human trabecular meshwork cell volume regulation. Am J Physiol Cell Physiol. 2002;283:C315-C326.
30. Gabelt BT, Wiederholt M, Clark AF, Kaufman PL. Anterior segment physiology after bumetanide inhibition of Na-K-Cl cotransport. Invest Ophthalmol Vis Sci. 1997;38:1700-1707.
31. Duden R. ER-to-Golgi transport: COP I and COP II function. Mol Membr Biol. 2003;20:197-207.
32. Kaplan RS, Mayor JA, Wood DO. The mitochondrial tricarboxylate transport protein: cDNA cloning, primary structure, and comparison with other mitochondrial transport proteins. J Biol Chem. 1993;268:13682-13690.
33. Ku D-H, Kagan J, Chen S-T, Chang C-D, Baserga R, Wurzel J. The human fibroblast adenine nucleotide translocator gene: molecular cloning and sequence. J Biol Chem. 1990;265:16060-16063.
34. Camacho JA, Obie C, Biery B, et al. Hyperornithinaemia-hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet. 1999;22:151-158.
35. Iacobazzi V, Palmieri F, Runswick MJ, Walker JE. Sequences of the human and bovine genes for the mitochondrial 2-oxoglutarate carrier. DNA Seq. 1992;3:79-88.
36. Tahara T, Kraus JP, Ohura T, Rosenberg LE, Fenton WA. Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia. J Inherit Metab Dis. 1993;16:353-360.
37. Brown TR, Lubahn DB, Wilson EM, Joseph DR, French FS, Migeon CJ. Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. Proc Natl Acad Sci U S A. 1988;85:8151-8155.
38. Newmark JR, Hardy DO, Tonb DC, et al. Androgen receptor gene mutations in human prostate cancer. Proc Natl Acad Sci U S A. 1992;89:6319-6323.
39. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991;352:77-79.
40. Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet. 1996;14:392-399.
41. Nishimura DY, Swiderski RE, Alward WLM, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998;19:140-147.
42. Mears AJ, Jordan T, Mirzayans F, et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet. 1998;63:1316-1328.
43. Vollrath D, Jaramillo-Babb VL, Clough MV, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in Nail-Patella Syndrome. Hum Mol Genet. 1998;7:1091-1098.
44. Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley F. Cosegregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol. 1997;124:506-515.
45. Smith RS, Zabaleta A, Kume T, et al. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development Hum Mol Genet. 2000;9:1021-1032.
46. Crisponi L, Deiana M, Loi A, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet. 2001;27:159-166.
47. Kiefer H, Chatail-Hermitte F, Ravassard P, Bayard E, Brunet I, Mallet J. ZENON, a novel POZ Kruppel-Like DNA binding protein associated with differentiation and/or survival of late postmitotic neurons. Mol Cell Biol. 2005;25:1713-1729.
48. Lehmann OJ, Ebenezer ND, Jordan T, et al. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am J Hum Genet. 2000;67:1129-1135.
49. Filion GJ, Zhenilo S, Salozhin S, Yamada D, Prokhortchouk E, Defossez PA. A family of human zinc finger proteins that bind methylated DNA and repress transcription. Mol Cell Biol. 2006;26:169-181.
50. Libby RT, Smith RS, Savinova OV, et al. Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science. 2003;299:1578-1581.
51. Sasai N, Matsuda E, Sarashina E, Ishida Y, Kawaichi M. Identification of a novel BTB-zinc finger transcriptional repressor, CIBZ, that interacts with CtBP corepressor. Genes Cells. 2005;10:871-885.
52. Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M. Dark-light: model for nightblindness from the human rhodopsin Gly90→Asp mutation. Proc Natl Acad Sci U S A. 1995;92:880-884.