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. Author manuscript; available in PMC: 2018 Nov 28.
Published in final edited form as: Nat Ecol Evol. 2018 May 28;2(7):1155–1160. doi: 10.1038/s41559-018-0569-4

Table 1. Cavefish genes with significant promoter hypermethylation and reduced expression are associated with human eye disorders.

Nineteen genes with both substantially increased methylation within the 2 Kb of genomic DNA upstream from the transcriptional start site (≥ 15% increase, p ≤ 0.05) and substantially decreased gene expression (fold decrease ≤ 1.5, p ≤ 0.05) in CF eyes compared to SF eyes that have also been linked to human eye disorders.

Eye Gene Log2 Fold Change in Gene Expression Change in Promoter Methylation (%) Associated Human Eye Disease
STX3 -2.6545922 15.0532125 Microvillus inclusion disease
IMPG1 -2.0676398 15.7283333 Macular dystrophy
GNB3 -2.1535092 15.7549858 Congenital nigh blindness
RS1 -4.8162527 16.2271036 Retinoschisis
ELOVL4 -2.7387552 16.9231332 Stargard disease
TRPM1 -1.5194777 17.1153846 Congenital night blindness
KCNV2 -2.6133734 19.2768429 Retinal cone dystrophy
HEPACAM -1.292728 19.2838136 Macrocephaly
CRX -1.3492741 20.3620072 Retinitis pigmentosa
PDE6H -2.4364817 20.8408953 Retinal cone dystrophy
PRPH2 -4.6162474 21.9236441 Retinitis pigmentosa
TMEM98 -1.3082467 23.6850216 Nanophthalmia
GRK1 -4.3915902 24.7866469 Oguchi disease
MYO7A -1.342215 31.2060616 Usher syndrome
ATP6V0A1 -1.4653532 32.7039627 Macroautophagy
TDRD7 -1.8275097 34.9881388 Cataract
OPN1MW -7.2622181 36.788428 Cone rod dystrophy
CRYGB -4.1315449 39.2857143 Polar cataract
OPN1LW -4.1525329 47.985771 Cone rod dystrophy