Table 3.
Microarray expression of high-priority lens and cataract genes in SRA01/04
| Gene | SRA 01/04 Expression | Association with Cataract and/or Function, Expression in the Lens | Citation |
|---|---|---|---|
| ALDH1A3 | 2207 | Mutation associated with human autosomal recessive anophthalmia and microphthalmia | (Semerci et al., 2014) |
| BCAR3 | 595 | Mouse mutants exhibit lens defects | (Kamaid and Giráldez, 2008; Near et al., 2009) |
| BTG1 | 1403 | Expressed in the lens | (Kamaid and Giráldez, 2008) |
| CELF1 | 141 | Mouse mutants exhibit lens fiber cell differentiation defects and cataract |
(Siddam et al., 2018) |
| CHMP4B | 1113 | Autosomal dominant progressive pediatric posterior subcapsular cataract | (Shiels et al., 2007) |
| COL18A1 | 1341 | Lens abnormalities; Col18a1:Hspg2 double mutant mouse models exhibit lens defects | (Menzel et al., 2004; Rossi et al., 2003) |
| COL4A1 | 4678 | Mouse mutants exhibit vacuolar cataract | (Van Agtmael et al., 2005) |
| COL4A5 | 1338 | Dominant X-linked congenital cataract | (Antignac et al., 1992) |
| CR1M1 | 440 | Mouse mutants exhibit smaller lenses | (Pennisi et al., 2007) |
| CRYAB | 269 | Autosomal dominant congenital cataract | (Berry et al., 2001) |
| CRYBB2 | 189 | Autosomal dominant progressive congenital Cataract | (Chen et al., 2013) |
| CRYGS | 104 | Autosomal dominant progressive cortical cataract | (Sun et al., 2005) |
| DHX32 | 850 | Mutation associated with human inherited retinal disease | (Astuti et al., 2018) |
| DKK3 | 2179 | Expressed in early mouse eye and lens development | (Ang et al., 2004) |
| EPHA2 | 207 | Autosomal dominant posterior polar cataract | (Shiels et al., 2008) |
| ERCC2 | 205 | Age related cortical and mixed cataract | (Unal et al., 2007; Padma et al., 2011) |
| ETV5 | 1297 | Nuclear effector of FGF signaling in mouse lens development | (Xie et al., 2016) |
| ETV6 | 363 | Expressed in lens development; regulated by Pax6 | (Cvekl et al., 2004) |
| FYCO1 | 274 | Autosomal recessive congenital cataracts | (Chen et al., 2011) |
| GALK1 | 1360 | Nuclear and age-related cataract | (Okano et al., 2001; Yasmeen et al., 2010) |
| GCNT2 | 160 | Autosomal recessive congenital cataracts | (Yu et al., 2001) |
| GJA1 | 1081 | Important for epithelial molecular transport and exchange; mutations associated cataract and other ocular defects | (Paznekas et al., 2003; Zampighi et al., 2000) |
| HMOX1 | 194 | Regulator of oxidative stress response in lens epithelium | (Rzymkiewicz et al., 2000) |
| HS2ST1 | 143 | Mutation results in eye defects | (Bullock et al., 1998) |
| HSPB1 | 7148 | Expressed in lens development | (Marvin et al., 2008) |
| INPPL1 | 1114 | Misregulation associated with keratoconus with cataract | (Hughes et al., 2011) |
| ITGA3 | 3556 | Itga3: Itga6 double null mouse exhibit lens defects | (De Arcangelis et al. , 1999) |
| ITGB1 | 11330 | Mouse mutants exhibit loss of lens epithelial cells | (Simirskii et al., 2007) |
| JAG1 | 179 | Mouse mutants exhibit lens fiber cell differentiation defects | (Le et al., 2012) |
| LAMA1 | 575 | Essential for lens development in zebrafish; mutation associated with lens extrusion defect | (Pathania, et al., 2014; Zinkevich et al., 2006) |
| LEPREL1 | 2361 | Nonsyndromic myopia and cataract | (Mordechai et al., 2011) |
| MAFG | 258 | Compound mutation with MafK results in cataract | (Agrawal et al., 2015) |
| MCM4 | 2241 | Expressed in lens epithelium | (Terrell et al., 2015) |
| MYH9 | 5046 | Cataract and other defects; mouse mutants exhibit lens defects | (Kunishima et al., 2001; Suzuki et al., 2013) |
| PAX6 | 355 | Congenital cataract, aniridia and corneal dystrophy; and induces ectopic lens | (Altmann et al., 1997; Glaser et al., 1994) |
| PVRL3 | 231 | Misregulation is associated with congenital cataract | (Weinstein et al., 1982) |
| PXDN | 1406 | Recessive congenital cataract | (Khan et al., 2011) |
| RAB3GAP1 | 1213 | Cataract and other phenotypes | (Handley et al., 2013) |
| RBM24 | 115 | Post-transcriptional regulator of Sox2 in lens development | Dash and Lachke, Unpublished Observations |
| RRAGA | 2433 | Nuclear and progressive posterior subcapsular cataract | (Chen et al., 2016) |
| SFRP1 | 1976 | Expressed in lens development | (Chen et al., 2004) |
| SMARCA4 | 2081 | Mutation causes lens fiber cell differentiation defects in mouse | (He et al., 2010) |
| SOX2 | 107 | Functions in mouse lens development; and mutations cause anophthalmia | (Donner et al., 2007) |
| SPARC | 2439 | Mouse mutants exhibit severe cataract and lens defects | (Fantes et al., 2003) |
| SPP1 | 135 | ECM component in postoperative capsular opacification, expressed by LECs on injury | (Saika et al., 2003) |
| STRA6 | 119 | Mutation causes anophthalmia | (Pasutto et al., 2007) |
| STX3 | 432 | Autosomal recessive congenital cataract | (Chograni et al., 2015) |
| SULF1 | 195 | Expressed in eye development | (Kalus et al., 2009) |
| TDRD7 | 689 | Deficiency causes cataract in human, mouse, and chicken | (Lachke et al., 2011; Tanaka et al., 2011) |
| VIM | 18429 | Heterozygous G596A mutation causes pulverulent cataract | (Muller et al., 2009) |