Table 3.
Differential expression of retinopathy related genes in Top2b cKO retinae.
| Stage | gene | log2 (fold change) |
p_value | q_value | disease | reference |
|---|---|---|---|---|---|---|
| P0 | Arl6 | −2 | 0.00161861 | 0.030496 | recessive Bardet-Biedl syndrome |
(Chiang et al. 2004; Fan et al. 2004) |
| Atxn7 | −2 | 0.00299047 | 0.048919 | dominant spinocerebellar ataxia w/ macular dystrophy or retinal degeneration |
(Aleman et al. 2002) |
|
| Bbs7 | −4.1 | 0.000536956 | 0.012973 | recessive Bardet Biedl syndrome |
(Badano et al. 2003) |
|
| Crx | −1.2 | 3.25587E-06 | 0.000281 | dominant cone-rod dystrophy; recessive, dominant and de novo Leber congenital amaurosis; dominant retinitis pigmentosa. |
(Furukawa et al. 1999; Hanein et al. 2004; Menotti- Raymond et al. 2010) |
|
| Dmd | −1.5 | 0.000626471 | 0.014728 | oregon eye disease (probably) |
(D'Souza et al. 1995) |
|
| Nr2e3 | −1.8 | 2.56724E-06 | 0.000241 | recessive enhanced S- cone syndrome; recessive retinitis pigmentosa in Portuguese Crypto Jews; Goldmann-Favre syndrome; dominant retinitis pigmentosa; combined dominant and recessive retinopathy |
(Coppieters et al. 2007; Escher et al. 2009; Sharon et al. 2003) |
|
| Pxmp3 | −1.4 | 0.000157789 | 0.005179 | recessive Refsum disease, infantile form |
(Gartner et al. 1992) |
|
| Trpm1 | −4.3 | 8.81098E-06 | 0.000589 | recessive congenital stationary night blindness, complete |
(Audo et al. 2009) | |
| Pde6b | 1.93 | 0.00273468 | 0.045837 | recessive retinitis pigmentosa; dominant congenital stationary night blindness |
(Riess et al. 1992) | |
| Rbp4 | 5.5 | 0.000100318 | 0.003672 | recessive RPE degeneration |
(Seeliger et al. 1999) |
|
|
P6 |
Iqcb1 | <−1024 | 3.03261E-11 | 2.15792E-08 | recessive Senior-Loken syndrome; recessive Leber congenital amaurosis |
(Estrada-Cuzcano et al. 2011; Otto et al. 2005) |
| Opn1sw | −1.4 | 3.15836E-12 | 2.5511E-09 | dominant tritanopia | (Weitz et al. 1992) | |
| Pgk1 | −1.1 | 2.70792E-08 | 1.09363E-05 | retinitis pigmentosa with myopathy |
(Tonin et al. 1993) | |
| Abca4 | 1.71 | 1.77636E-15 | 1.90E-12 | recessive Stargardt disease, juvenile and late onset; recessive macular dystrophy; recessive retinitis pigmentosa; recessive fundus flavimaculatus; recessive cone-rod dystrophy; |
(Gerber et al. 1995; Maugeri et al. 2000; Molday et al. 2000) |
Genes involve in photoreceptor cell-related retinal diseases are shown in bold.