Suzanne de Bruijn

223 Structural variants cause ectopic enhancer-gene contact in retinitis pigmentosa Wildtype GDPD1 PRR11 SMG8 YPEL2 DHX40 CLTC LN 01476 > < NL-SV1 GDPD1 PRR11 SMG8 YPEL2 01476 < GDPD1 PRR11 SMG8 LN 01476 < GDPD1 PRR11 SMG8 YPEL2 GDPD1 YPEL2 LN YPEL2 < SMG8 GDPD1 GDPD1 SMG8 01476 < LN YPEL2 TAD Inversion Boundary Duplication Triplication CTCF orientation PRR11 DHX40 B B B Neo-TAD YPEL2 TAD B B C A PRR11 B B B Enhancer interaction B B > B > B B UK-SV2 > B > B B B Neo-TAD 1 Neo-TAD 2 DHX40 GDPD1 YPEL2 TAD PRR11 D E E G H G B B B B Retinal enhancer SA-SV3 > B > B B Neo-TAD I J N L M B J K L M B B E GDPD1 YPEL2 Genes LINC01476 SMG8 SMG8 SMG8 GDPD1 GDPD1 YPEL2 Genes LINC01476 DHX40 SMG8 Genes LINC01476 LINC01476 GDPD1 PRR11 YPEL2 YPEL2 SMG8 YPEL2 F Genes SMG8 LINC01476 LINC01476 LINC01476 SMG8 PRR11 YPEL2 PRR11 GDPD1 DHX40 GDPD1 YPEL2 Figure continues on next page