Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

American Journal of Human Genetics

Volumn 98, Issue 1, 2016, Pages 75-89

  Davidson, Alice E ^a   Liskova, Petra ^a,b,c   Evans, Cerys J ^a   Dudakova, Lubica ^b   Nosková, Lenka ^b   Pontikos, Nikolas ^a,d   Hartmannová, Hana ^b   Hodaňová, Kateřina ^b   Stránecký, Viktor ^b   Kozmík, Zbyněk ^e   Levis, Hannah J ^a   Idigo, Nwamaka ^a   Sasai, Noriaki ^a   Maher, Geoffrey J ^f   Bellingham, James ^a   Veli, Neyme ^g   Ebenezer, Neil D ^a   Cheetham, Michael E ^a   Daniels, Julie T ^a   Thaung, Caroline M H ^a,g   Jirsova, Katerina ^b   Plagnol, Vincent ^d   Filipec, Martin ^h   Kmoch, Stanislav ^b   Tuft, Stephen J ^a,g   Hardcastle, Alison J ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^c CHARLES UNIVERSITY   (Czech Republic)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e INSTITUTE OF MOLECULAR GENETICS   (Czech Republic)

^f UNIVERSITY OF OXFORD   (United Kingdom)

^g MOORFIELDS EYE HOSPITAL   (United Kingdom)

^h European Eye Clinic Lexum   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; OVO LIKE ZINC FINGER 2 PROTEIN; PPCD1 PROTEIN; PROTEIN PATCHED 1; TRANSCRIPTION FACTOR ZEB1; UNCLASSIFIED DRUG; DNA; OVOL2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BINDING SITE; CHILD; CONTROLLED STUDY; COPY NUMBER VARIATION; CORNEA DYSTROPHY; CORNEA ENDOTHELIUM; EPITHELIAL MESENCHYMAL TRANSITION; GENE MUTATION; GENE REPRESSION; GENE SEQUENCE; GENE TARGETING; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; PARALLEL DESIGN; PEDIGREE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; REGULATORY SEQUENCE; TRANSCRIPTION REGULATION; CONGENITAL CORNEA DYSTROPHY; FEMALE; GENETICS; MALE; MUTATION; NUCLEOTIDE SEQUENCE; SEQUENCE HOMOLOGY;

ALLELES; BASE SEQUENCE; CORNEAL DYSTROPHIES, HEREDITARY; DNA; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; PROMOTER REGIONS, GENETIC; SEQUENCE HOMOLOGY, NUCLEIC ACID; TRANSCRIPTION FACTORS;

EID: 84954372665     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.11.018     Document Type: Article

References (49)

1. J.S. Weiss, H.U. Møller, A.J. Aldave, B. Seitz, C. Bredrup, T. Kivelä, F.L. Munier, C.J. Rapuano, K.K. Nischal, E.K. Kim, and et al. IC3D classification of corneal dystrophies - edition 2 Cornea 34 2015 117 159
2. G.W. Cibis, J.A. Krachmer, C.D. Phelps, and T.A. Weingeist The clinical spectrum of posterior polymorphous dystrophy Arch. Ophthalmol. 95 1977 1529 1537
3. J.H. Krachmer Posterior polymorphous corneal dystrophy: a disease characterized by epithelial-like endothelial cells which influence management and prognosis Trans. Am. Ophthalmol. Soc. 83 1985 413 475
4. W.G. Pearce, R.C. Tripathi, and G. Morgan Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study Br. J. Ophthalmol. 53 1969 577 591
5. V.S. Yellore, J.C. Papp, E. Sobel, M.A. Khan, S.A. Rayner, D.B. Farber, and A.J. Aldave Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20 Genet. Med. 9 2007 228 234
6. R. Gwilliam, P. Liskova, M. Filipec, S. Kmoch, K. Jirsova, E.J. Huckle, C.L. Stables, S.S. Bhattacharya, A.J. Hardcastle, P. Deloukas, and N.D. Ebenezer Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene Invest. Ophthalmol. Vis. Sci. 46 2005 4480 4484
7. E. Héon, W.D. Mathers, W.L. Alward, R.W. Weisenthal, S.L. Sunden, J.A. Fishbaugh, C.M. Taylor, J.H. Krachmer, V.C. Sheffield, and E.M. Stone Linkage of posterior polymorphous corneal dystrophy to 20q11 Hum. Mol. Genet. 4 1995 485 488
8. A.J. Aldave, V.S. Yellore, F. Yu, N. Bourla, B. Sonmez, A.K. Salem, S.A. Rayner, K.M. Sampat, C.M. Krafchak, and J.E. Richards Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia Am. J. Med. Genet. A. 143A 2007 2549 2556
9. C.M. Krafchak, H. Pawar, S.E. Moroi, A. Sugar, P.R. Lichter, D.A. Mackey, S. Mian, T. Nairus, V. Elner, M.T. Schteingart, and et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells Am. J. Hum. Genet. 77 2005 694 708
10. P. Liskova, C.J. Evans, A.E. Davidson, M. Zaliova, L. Dudakova, M. Trkova, V. Stranecky, N. Carnt, V. Plagnol, A.L. Vincent, and et al. Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3 Eur. J. Hum. Genet. 2015 10.1038/ejhg.2015.232 Published online October 28, 2015
11. S. Biswas, F.L. Munier, J. Yardley, N. Hart-Holden, R. Perveen, P. Cousin, J.E. Sutphin, B. Noble, M. Batterbury, C. Kielty, and et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy Hum. Mol. Genet. 10 2001 2415 2423
12. P. Liskova, R. Gwilliam, M. Filipec, K. Jirsova, S. Reinstein Merjava, P. Deloukas, T.R. Webb, S.S. Bhattacharya, N.D. Ebenezer, A.G. Morris, and A.J. Hardcastle High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation PLoS ONE 7 2012 e45495
13. A.J. Aldave, V.S. Yellore, R.C. Vo, K.M. Kamal, S.A. Rayner, C.L. Plaisier, M.C. Chen, M.R. Damani, M.N. Pham, M.B. Gorin, and et al. Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval Cornea 28 2009 801 807
14. I.N. Lai, V.S. Yellore, S.A. Rayner, N.C. D'Silva, C.K. Nguyen, and A.J. Aldave The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus Mol. Vis. 16 2010 2829 2838
15. C.M. Kirkness, A. McCartney, N.S. Rice, A. Garner, and A.D. Steele Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology Br. J. Ophthalmol. 71 1987 130 144
16. N.M. Toma, N.D. Ebenezer, C.F. Inglehearn, C. Plant, L.A. Ficker, and S.S. Bhattacharya Linkage of congenital hereditary endothelial dystrophy to chromosome 20 Hum. Mol. Genet. 4 1995 2395 2398
17. A.J. Aldave, J. Han, and R.F. Frausto Genetics of the corneal endothelial dystrophies: an evidence-based review Clin. Genet. 84 2013 109 119
18. V. Stránecký, A. Hoischen, H. Hartmannová, M.S. Zaki, A. Chaudhary, E. Zudaire, L. Nosková, V. Barešová, A. Přistoupilová, K. Hodaňová, and et al. Mutations in ANTXR1 cause GAPO syndrome Am. J. Hum. Genet. 92 2013 792 799
19. E. van de Steeg, V. Stránecký, H. Hartmannová, L. Nosková, M. Hřebíček, E. Wagenaar, A. van Esch, D.R. de Waart, R.P. Oude Elferink, K.E. Kenworthy, and et al. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver J. Clin. Invest. 122 2012 519 528
20. V. Plagnol, J. Curtis, M. Epstein, K.Y. Mok, E. Stebbings, S. Grigoriadou, N.W. Wood, S. Hambleton, S.O. Burns, A.J. Thrasher, and et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling Bioinformatics 28 2012 2747 2754
21. P. Cingolani, A. Platts, L. Wang, M. Coon, T. Nguyen, L. Wang, S.J. Land, X. Lu, and D.M. Ruden A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3 Fly (Austin) 6 2012 80 92
22. U. Paila, B.A. Chapman, R. Kirchner, and A.R. Quinlan GEMINI: integrative exploration of genetic variation and genome annotations PLoS Comput. Biol. 9 2013 e1003153
23. H. Li, and R. Durbin Fast and accurate long-read alignment with Burrows-Wheeler transform Bioinformatics 26 2010 589 595
24. P. Kumar, S. Henikoff, and P.C. Ng Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm Nat. Protoc. 4 2009 1073 1081
25. K. Cartharius, K. Frech, K. Grote, B. Klocke, M. Haltmeier, A. Klingenhoff, M. Frisch, M. Bayerlein, and T. Werner MatInspector and beyond: promoter analysis based on transcription factor binding sites Bioinformatics 21 2005 2933 2942
26. G.S. Peh, R.W. Beuerman, A. Colman, D.T. Tan, and J.S. Mehta Human corneal endothelial cell expansion for corneal endothelium transplantation: an overview Transplantation 91 2011 811 819
27. M. Valtink, R. Gruschwitz, R.H. Funk, and K. Engelmann Two clonal cell lines of immortalized human corneal endothelial cells show either differentiated or precursor cell characteristics Cells Tissues Organs (Print) 187 2008 286 294
28. L. Dudakova, P. Liskova, T. Trojek, M. Palos, S. Kalasova, and K. Jirsova Changes in lysyl oxidase (LOX) distribution and its decreased activity in keratoconus corneas Exp. Eye Res. 104 2012 74 81
29. I. Massie, M. Dziasko, A. Kureshi, H.J. Levis, L. Morgan, M. Neale, R. Sheth, V.E. Tovell, A.J. Vernon, J.L. Funderburgh, and J.T. Daniels Advanced imaging and tissue engineering of the human limbal epithelial stem cell niche Methods Mol. Biol. 1235 2015 179 202
30. S. Merjava, E. Malinova, P. Liskova, M. Filipec, Z. Zemanova, K. Michalova, and K. Jirsova Recurrence of posterior polymorphous corneal dystrophy is caused by the overgrowth of the original diseased host endothelium Histochem. Cell Biol. 136 2011 93 101
31. P. Studeny, K. Jirsova, P. Kuchynka, and P. Liskova Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy Indian J. Ophthalmol. 60 2012 59 60
32. E. Sánchez-Tilló, A. Lázaro, R. Torrent, M. Cuatrecasas, E.C. Vaquero, A. Castells, P. Engel, and A. Postigo ZEB1 represses E-cadherin and induces an EMT by recruiting the SWI/SNF chromatin-remodeling protein BRG1 Oncogene 29 2010 3490 3500
33. H. Roca, J. Hernandez, S. Weidner, R.C. McEachin, D. Fuller, S. Sud, T. Schumann, J.E. Wilkinson, A. Zaslavsky, H. Li, and et al. Transcription factors OVOL1 and OVOL2 induce the mesenchymal to epithelial transition in human cancer PLoS ONE 8 2013 e76773
34. Y. Chen, K. Huang, M.N. Nakatsu, Z. Xue, S.X. Deng, and G. Fan Identification of novel molecular markers through transcriptomic analysis in human fetal and adult corneal endothelial cells Hum. Mol. Genet. 22 2013 1271 1279
35. B. Li, Q. Dai, L. Li, M. Nair, D.R. Mackay, and X. Dai Ovol2, a mammalian homolog of Drosophila ovo: gene structure, chromosomal mapping, and aberrant expression in blind-sterile mice Genomics 80 2002 319 325
36. M. Notara, and J.T. Daniels Characterisation and functional features of a spontaneously immortalised human corneal epithelial cell line with progenitor-like characteristics Brain Res. Bull. 81 2010 279 286
37. D.W. Chung, R.F. Frausto, L.B. Ann, M.S. Jang, and A.J. Aldave Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies Invest. Ophthalmol. Vis. Sci. 55 2014 6159 6166
38. B. Lee, A. Villarreal-Ponce, M. Fallahi, J. Ovadia, P. Sun, Q.C. Yu, S. Ito, S. Sinha, Q. Nie, and X. Dai Transcriptional mechanisms link epithelial plasticity to adhesion and differentiation of epidermal progenitor cells Dev. Cell 29 2014 47 58
39. K.M. de Vooght, R. van Wijk, and W.W. van Solinge Management of gene promoter mutations in molecular diagnostics Clin. Chem. 55 2009 698 708
40. A. Teng, M. Nair, J. Wells, J.A. Segre, and X. Dai Strain-dependent perinatal lethality of Ovol1-deficient mice and identification of Ovol2 as a downstream target of Ovol1 in skin epidermis Biochim. Biophys. Acta 1772 2007 89 95
41. Y.C. Lin, M. Boone, L. Meuris, I. Lemmens, N. Van Roy, A. Soete, J. Reumers, M. Moisse, S. Plaisance, R. Drmanac, and et al. Genome dynamics of the human embryonic kidney 293 lineage in response to cell biology manipulations Nat. Commun. 5 2014 4767
42. G. Shaw, S. Morse, M. Ararat, and F.L. Graham Preferential transformation of human neuronal cells by human adenoviruses and the origin of HEK 293 cells FASEB J. 16 2002 869 871
43. C. Murphy, J. Alvarado, R. Juster, and M. Maglio Prenatal and postnatal cellularity of the human corneal endothelium. A quantitative histologic study Invest. Ophthalmol. Vis. Sci. 25 1984 312 322
44. E.S. Sherrard, P. Novakovic, and L. Speedwell Age-related changes of the corneal endothelium and stroma as seen in vivo by specular microscopy Eye (Lond.) 1 1987 197 203
45. D.R. Mackay, M. Hu, B. Li, C. Rhéaume, and X. Dai The mouse Ovol2 gene is required for cranial neural tube development Dev. Biol. 291 2006 38 52
46. L. Menendez, M.J. Kulik, A.T. Page, S.S. Park, J.D. Lauderdale, M.L. Cunningham, and S. Dalton Directed differentiation of human pluripotent cells to neural crest stem cells Nat. Protoc. 8 2013 203 212
47. J.L. Duband, M. Delannet, F. Monier, S. Garret, and N. Desban Modulations of cellular interactions during development of the neural crest: role of growth factors and adhesion molecules Curr. Top. Microbiol. Immunol. 212 1996 207 227
48. K.G. Wulle, and W. Lerche Electron microscopic observations of the early development of the human corneal endothelium and Descemet's membrane Ophthalmologica 157 1969 451 461
49. K. Jirsova, S. Merjava, R. Martincova, R. Gwilliam, N.D. Ebenezer, P. Liskova, and M. Filipec Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients Exp. Eye Res. 84 2007 680 686