Zinc finger protein 408 in the pathogenesis of familial exudative vitreoretinopathy_Chinese Journal of Ocular Fundus Diseases

Authors：

Department of Ophthalmology, Xinhua Hospital Affiliated to Shanghai Jiaotong University, School of Medicine, Shanghai 200092, China;

Corresponding author：

Keywords：

Retinal diseases/genetics; Review

DOI：

10.3760/cma.j.issn.1005-1015.2016.06.028

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Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis, including autosomal dominant, autosomal recessive, or X-linked forms. Zinc finger protein 408 (ZNF408) was recently found to be associated with FEVR. Cell transfection showed that it was a dominant negative regulator of FEVR pathogenesis. Knocking down ZNF408 in zebrafish by antisense morpholino oligonucleotides indicated it involved in retinal blood vessel development. Understanding the protein structure, gene localization, basic functions and the role of ZNF408 in retinal development will contribute to uncover the pathogenesis of FEVR.

Citation： LiYian, ZhangQi, ZhaoPeiquan. Zinc finger protein 408 in the pathogenesis of familial exudative vitreoretinopathy. Chinese Journal of Ocular Fundus Diseases, 2016, 32(6): 661-662. doi: 10.3760/cma.j.issn.1005-1015.2016.06.028 Copy

1.	Chen ZY, Battinelli EM, Fielder A, et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy[J].Nat Genet, 1993, 5(2):180-183.
2.	Gow J, Oliver GL. Familial exudative vitreoretinopathy:an expanded view[J]. Arch Ophthalmol, 1971, 86(2):150-155.
3.	Jiao X, Ventruto V, Trese MT, et al. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5[J].Am J Hum Genet, 2004, 75(5):878-884.
4.	van Nouhuys CE. Dominant exudative vitreoretinopathy[J].Ophthalmic Paediatr Genet, 1985, 5(1-2):31-38.
5.	van Nouhuys CE.Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina[J].Doc Ophthalmol, 1982, 54(1-4):1-414.
6.	Berger W, van de Pol D, Warburg M, et al. Mutations in the candidate gene for Norrie disease[J].Hum Mol Genet, 1992, 1(7):461-465.
7.	Nikopoulos K, Gilissen C, Hoischen A, et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy[J].Am J Hum Genet, 2010, 86(2):240-247. DOI:10.1016/j.ajhg. 2009. 12.016.
8.	Poulter JA, Ali M, Gilmour DF, et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy[J].Am J Hum Genet, 2010, 86(2):248-253. DOI:10.1016/j.ajhg.2010.01.012.
9.	Toomes C, Bottomley HM, Jackson RM, et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q[J]. Am J Hum Genet, 2004, 74(4):721-730.
10.	Boonstra FN, van Nouhuys CE, Schuil J, et al. Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy[J].Invest Ophthalmol Vis Sci, 2009, 50(9):4379-4385. DOI:10.1167/iovs.08-3320.
11.	Nikopoulos K, Venselaar H, Collin RW, et al. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP[J].Hum Mutat, 2010, 31(6):656-666. DOI:10.1002/humu.21250.
12.	Collin RW, Nikopoulos K, Dona M, et al. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature[J].Proc Natl Acad Sci USA, 2013, 110(24):9856-9861. DOI:10.1073/pnas. 1220864110.
13.	Xu Q, Wang Y, Dabdoub A, et al. Vascular development in the retina and inner ear:control by Norrin and Frizzled-4, a high-affinity ligand-receptor pari[J]. Cell, 2004, 116(6):883-895.
14.	Cui X, De Vivo I, Slany R, et al. Association of SET domain and myotubularin-related proteins modulates growth control[J].Nat Genet, 1998, 18(4):331-337.
15.	Huang S, Shao G, Liu L. The PR domain of the Rb-binding zinc finger protein RIZ1 is a protein binding interface and is related to the SET domain functioning in chromatin-mediated gene expression[J].J Biol Chem, 1998, 273(26):15933-15939.
16.	Min J, Zhang X, Cheng X, et al. Structure of the SET domain histone lysine methyltransferase Clr4[J].Nat Struct Biol, 2002, 9(11):828-832.
17.	Downey LM, Keen TJ, Roberts E, et al. A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13[J]. Am J Hum Genet, 2001, 68(3):778-781.
18.	Robitaille J, MacDonald ML, Kaykas A, et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy[J].Nat Genet, 2002, 32(2):326-330.
19.	Toomes C, Downey LM, Bottomley HM, et al. Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree[J]. Br J Ophthalmol, 2005, 89(2):194-197.
20.	Mackay JP, Crossley M. Zinc fingers are sticking together[J].Trends Biochem Sci, 1998, 23(1):1-4.
21.	Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome[J].Nature, 2001, 409(6822):860-921.DOI:10.1038/35057062.
22.	Morgan B, Sun L, Avitahl N, et al. Aiolos, a lymphoid restricted transcription factor that interacts with Ikaros to regulate lymphocyte differentiation[J].EMBO J, 1997, 16(8):2004-2013.
23.	Tsai RY, Reed RR. Identification of DNA recognition sequences and protein interaction domains of the multiple-Zn-finger protein Roaz[J].Mol Cell Biol, 1998, 18(11):6447-6456.
24.	Ayyagari R, Mandal MN, Karoukis AJ, et al. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation[J].Invest Ophthalmol Vis Sci, 2005, 46(9):3363-3371.
25.	Alvarez Y, Cederlund ML, Cottell DC, et al. Genetic determinants of hyaloid and retinal vasculature in zebrafish[J].BMC Dev Biol, 2007, 7:114.
26.	Izumi N, Helker C, Ehling M, et al.Fbxw7 controls angiogenesis by regulating endothelial Notch activity[J/OL].PLoS One, 2012, 7(7):41116[2012-07-21].http://dx.doi.org/10.1371/journal.pone.0041116. DOI:10.1371/journal.pone.0041116.
27.	Ben Shoham A, Malkinson G, Krief S, et al.S1P1 inhibits sprouting angiogenesis during vascular development[J].Development, 2012, 139(20):3859-3869.
28.	McCarty AS, Kleiger G, Eisenberg D, et al. Selective dimerization of a C₂H₂ zinc finger subfamily[J].Mol Cell, 2003, 11(2):459-470.
29.	Sun L, Liu A, Georgopoulos K. Zinc finger-mediated protein interactions modulate Ikaros activity, a molecular control of lymphocyte development[J].EMBO J, 1996, 15(19):5358-5369.
30.	Avila-Fernandez A, Perez-Carro R, Corton M, et al. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations[J].Hum Mol Genet, 2015, 24(14):4037-4048. DOI:10.1093/hmg/ddv140.
31.	Salvo J, Lyubasyuk V, Xu M, et al. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients[J]. Invest Ophthalmol Vis Sci, 2015, 56(3):1937-1946.DOI:10.1167/iovs.14-16065.
32.	Seo SH, Yu YS, Park SW, et al. Molecular Characterization of FZD4, LRP5, and TSPAN12 in familial exudative vitreoretinopathy[J].Invest Ophthalmol Vis Sci, 2015, 56(9):5143-5151.DOI:10.1167/iovs.14-15680.

1. Chen ZY, Battinelli EM, Fielder A, et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy[J].Nat Genet, 1993, 5(2):180-183.
2. Gow J, Oliver GL. Familial exudative vitreoretinopathy:an expanded view[J]. Arch Ophthalmol, 1971, 86(2):150-155.
3. Jiao X, Ventruto V, Trese MT, et al. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5[J].Am J Hum Genet, 2004, 75(5):878-884.
4. van Nouhuys CE. Dominant exudative vitreoretinopathy[J].Ophthalmic Paediatr Genet, 1985, 5(1-2):31-38.
5. van Nouhuys CE.Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina[J].Doc Ophthalmol, 1982, 54(1-4):1-414.
6. Berger W, van de Pol D, Warburg M, et al. Mutations in the candidate gene for Norrie disease[J].Hum Mol Genet, 1992, 1(7):461-465.
7. Nikopoulos K, Gilissen C, Hoischen A, et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy[J].Am J Hum Genet, 2010, 86(2):240-247. DOI:10.1016/j.ajhg. 2009. 12.016.
8. Poulter JA, Ali M, Gilmour DF, et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy[J].Am J Hum Genet, 2010, 86(2):248-253. DOI:10.1016/j.ajhg.2010.01.012.
9. Toomes C, Bottomley HM, Jackson RM, et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q[J]. Am J Hum Genet, 2004, 74(4):721-730.
10. Boonstra FN, van Nouhuys CE, Schuil J, et al. Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy[J].Invest Ophthalmol Vis Sci, 2009, 50(9):4379-4385. DOI:10.1167/iovs.08-3320.
11. Nikopoulos K, Venselaar H, Collin RW, et al. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP[J].Hum Mutat, 2010, 31(6):656-666. DOI:10.1002/humu.21250.
12. Collin RW, Nikopoulos K, Dona M, et al. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature[J].Proc Natl Acad Sci USA, 2013, 110(24):9856-9861. DOI:10.1073/pnas. 1220864110.
13. Xu Q, Wang Y, Dabdoub A, et al. Vascular development in the retina and inner ear:control by Norrin and Frizzled-4, a high-affinity ligand-receptor pari[J]. Cell, 2004, 116(6):883-895.
14. Cui X, De Vivo I, Slany R, et al. Association of SET domain and myotubularin-related proteins modulates growth control[J].Nat Genet, 1998, 18(4):331-337.
15. Huang S, Shao G, Liu L. The PR domain of the Rb-binding zinc finger protein RIZ1 is a protein binding interface and is related to the SET domain functioning in chromatin-mediated gene expression[J].J Biol Chem, 1998, 273(26):15933-15939.
16. Min J, Zhang X, Cheng X, et al. Structure of the SET domain histone lysine methyltransferase Clr4[J].Nat Struct Biol, 2002, 9(11):828-832.
17. Downey LM, Keen TJ, Roberts E, et al. A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13[J]. Am J Hum Genet, 2001, 68(3):778-781.
18. Robitaille J, MacDonald ML, Kaykas A, et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy[J].Nat Genet, 2002, 32(2):326-330.
19. Toomes C, Downey LM, Bottomley HM, et al. Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree[J]. Br J Ophthalmol, 2005, 89(2):194-197.
20. Mackay JP, Crossley M. Zinc fingers are sticking together[J].Trends Biochem Sci, 1998, 23(1):1-4.
21. Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome[J].Nature, 2001, 409(6822):860-921.DOI:10.1038/35057062.
22. Morgan B, Sun L, Avitahl N, et al. Aiolos, a lymphoid restricted transcription factor that interacts with Ikaros to regulate lymphocyte differentiation[J].EMBO J, 1997, 16(8):2004-2013.
23. Tsai RY, Reed RR. Identification of DNA recognition sequences and protein interaction domains of the multiple-Zn-finger protein Roaz[J].Mol Cell Biol, 1998, 18(11):6447-6456.
24. Ayyagari R, Mandal MN, Karoukis AJ, et al. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation[J].Invest Ophthalmol Vis Sci, 2005, 46(9):3363-3371.
25. Alvarez Y, Cederlund ML, Cottell DC, et al. Genetic determinants of hyaloid and retinal vasculature in zebrafish[J].BMC Dev Biol, 2007, 7:114.
26. Izumi N, Helker C, Ehling M, et al.Fbxw7 controls angiogenesis by regulating endothelial Notch activity[J/OL].PLoS One, 2012, 7(7):41116[2012-07-21].10.1371/journal.pone.0041116">http://dx.doi.org/10.1371/journal.pone.0041116. DOI:10.1371/journal.pone.0041116.
27. Ben Shoham A, Malkinson G, Krief S, et al.S1P1 inhibits sprouting angiogenesis during vascular development[J].Development, 2012, 139(20):3859-3869.
28. McCarty AS, Kleiger G, Eisenberg D, et al. Selective dimerization of a C₂H₂ zinc finger subfamily[J].Mol Cell, 2003, 11(2):459-470.
29. Sun L, Liu A, Georgopoulos K. Zinc finger-mediated protein interactions modulate Ikaros activity, a molecular control of lymphocyte development[J].EMBO J, 1996, 15(19):5358-5369.
30. Avila-Fernandez A, Perez-Carro R, Corton M, et al. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations[J].Hum Mol Genet, 2015, 24(14):4037-4048. DOI:10.1093/hmg/ddv140.
31. Salvo J, Lyubasyuk V, Xu M, et al. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients[J]. Invest Ophthalmol Vis Sci, 2015, 56(3):1937-1946.DOI:10.1167/iovs.14-16065.
32. Seo SH, Yu YS, Park SW, et al. Molecular Characterization of FZD4, LRP5, and TSPAN12 in familial exudative vitreoretinopathy[J].Invest Ophthalmol Vis Sci, 2015, 56(9):5143-5151.DOI:10.1167/iovs.14-15680.

Chinese Journal of Ocular Fundus Diseases

Zinc finger protein 408 in the pathogenesis of familial exudative vitreoretinopathy

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