Khanh-Nhat Tran-Viet, Caldwell Powell, Veluchamy A

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Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia Khanh-Nhat Tran-Viet, Caldwell Powell, Veluchamy A. Barathi, Thomas Klemm, Sebastian Maurer-Stroh, Vachiranee Limviphuvadh, Vincent Soler, Candice Ho, Tammy Yanovitch, Georg Schneider, Yi-Ju Li, Erica Nading, Ravikanth Metlapally, Seang-Mei Saw, Liang Goh, Steve Rozen, Terri L. Young The American Journal of Human Genetics Volume 92, Issue 5, Pages 820-826 (May 2013) DOI: 10.1016/j.ajhg.2013.04.005 Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 1 A Family with High-Grade Myopia Segregation of SCO2 mutation (c.157C>T) in a high-grade myopia family. Abbreviations are as follows: + indicates DNA available for this study, and § indicates samples used for exome sequencing. Where available, the genotype of each individual is shown as a “WT” for the wild-type allele and as an “M” for the mutated allele. The American Journal of Human Genetics 2013 92, 820-826DOI: (10.1016/j.ajhg.2013.04.005) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 2 Immunofluorescent Labeling of Sco2 in Mouse Ocular Tissues in Induced Myopic Eyes, Fellow Eyes, and Independent Control Eyes Immunofluorescent labeling of Sco2 in mouse retina, retinal pigment epithelium, and sclera in induced myopic eyes, fellow eyes, and independent control eyes. The florescence intensity labeled of the green color shows the localization of proteins, and blue color indicates the nuclei that were stained with DAPI. Lower level of abundance was determined for myopic retina and RPE, whereas a higher level of abundance was found in myopic sclera. The following abbreviations represent the retinal layers: NFL, nerve fiber layer; GCL, ganglion cell layer; IPL, inner plexiform layer; INL, inner nuclear layer; OPL, outer plexiform layer; ONL, outer nuclear layer; PRL, photo receptor layer; and RPE, retinal pigment epithelium. The American Journal of Human Genetics 2013 92, 820-826DOI: (10.1016/j.ajhg.2013.04.005) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 3 Transcription Quantification of Sco2 in Mouse Retina and Sclera in Induced Myopic Eyes, Fellow Eyes, and Independent Control Eyes Experimental myopia was induced in B6 wild-type (WT) mice (n = 36) by applying a −15.00 D spectacle lens on the right eye (experimental eye) for 6 weeks since postnatal day 10. The left eyes were uncovered and served as contra-lateral fellow eyes. Age-matched naive mice eyes were used as independent control eyes (n = 36). Primer sequences to conduct qRT-PCR were forward 5′ ATC GCA CAG CCC TAA GTC TC 3′ and reverse 5′ CAG TAG CAT CGT GGA CCT GA 3′ (NM_001111288.1). The bar represents the fold changes of mRNA for Sco2 after normalization by using GAPDH as reference. The mRNA levels of sco2 in myopic and fellow retina and sclera are compared with independent controls. Relative fold change—the values are shown in log values (210). n = 36; *p < 0.05, **p < 0.01 and ***p < 0.001. The American Journal of Human Genetics 2013 92, 820-826DOI: (10.1016/j.ajhg.2013.04.005) Copyright © 2013 The American Society of Human Genetics Terms and Conditions