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Copyright © 2007 American Medical Association. All rights reserved. From: Analyses of a Novel L130F Missense Mutation in FOXC1 Arch Ophthalmol. 2007;125(1):128-135. doi:10.1001/archopht.125.1.128 Figure Legend: Identification of the L130F mutation in the FOXC1 (forkhead box C1) gene. The chromatogram shows the genomic DNA sequence of an unaffected individual and patient 2. Patient 2 has a heterozygous C-to-T transition that results in a leucine-to-phenylalanine change at codon position 130. Date of download: 10/22/2017 Copyright © 2007 American Medical Association. All rights reserved.

Copyright © 2007 American Medical Association. All rights reserved. From: Analyses of a Novel L130F Missense Mutation in FOXC1 Arch Ophthalmol. 2007;125(1):128-135. doi:10.1001/archopht.125.1.128 Figure Legend: The L130F mutation in the FOXC1 (forkhead box C1) gene does not affect protein stability. The Xpress (Invitrogen, Carlsbad, Calif) epitope–tagged wild-type (WT) FOXC1 and L130F, transfected into COS-7 cells, were detected by immunoblotting. The L130F protein is expressed at levels similar to those of WT FOXC1 protein. Both occurred as a doublet at approximately 65 kDa. The protein size marker is indicated to the left. Date of download: 10/22/2017 Copyright © 2007 American Medical Association. All rights reserved.

Copyright © 2007 American Medical Association. All rights reserved. From: Analyses of a Novel L130F Missense Mutation in FOXC1 Arch Ophthalmol. 2007;125(1):128-135. doi:10.1001/archopht.125.1.128 Figure Legend: The L130F mutation in the FOXC1 (forkhead box C1) gene alters phosphorylation of wild-type (WT) FOXC1 protein. In this immunoblot, the disappearance of the higher-molecular-weight bands on incubation with calf intestinal alkaline phosphatase (CIP) and their appearance with the inhibition of CIP by sodium vanadate (NaVO3) indicated that the WT FOXC1 and L130F proteins are both phosphorylated. Date of download: 10/22/2017 Copyright © 2007 American Medical Association. All rights reserved.

Copyright © 2007 American Medical Association. All rights reserved. From: Analyses of a Novel L130F Missense Mutation in FOXC1 Arch Ophthalmol. 2007;125(1):128-135. doi:10.1001/archopht.125.1.128 Figure Legend: The L130F mutation in the FOXC1 (forkhead box C1) gene disrupts efficient nuclear localization of the FOXC1 protein. The L130F proteins, visualized by Cy3 fluorescence (red) during microscopy, showed reduced localization to the nucleus, visualized by 4′,6-diamidine-2-phenylindole staining (blue), compared with wild-type (WT) FOXC1. A total of 480 cells and 623 cells were counted for WT FOXC1 and L130F, respectively. Date of download: 10/22/2017 Copyright © 2007 American Medical Association. All rights reserved.

Copyright © 2007 American Medical Association. All rights reserved. From: Analyses of a Novel L130F Missense Mutation in FOXC1 Arch Ophthalmol. 2007;125(1):128-135. doi:10.1001/archopht.125.1.128 Figure Legend: The L130F mutation in the FOXC1 (forkhead box C1) gene impairs DNA binding. The wild-type (WT) FOXC1 and L130F proteins were incubated with phosphorus 32-deoxycytidine triphosphate–labeled double-stranded DNA containing FOXC1-binding sites. Unlike WT FOXC1, which formed protein-DNA complexes (*), the electrophoretic mobility shift assay showed, with this autoradiogram, that the L130F protein was unable to bind to DNA even at high concentrations. Date of download: 10/22/2017 Copyright © 2007 American Medical Association. All rights reserved.

Copyright © 2007 American Medical Association. All rights reserved. From: Analyses of a Novel L130F Missense Mutation in FOXC1 Arch Ophthalmol. 2007;125(1):128-135. doi:10.1001/archopht.125.1.128 Figure Legend: The L130F mutation in the FOXC1 (forkhead box C1) gene impairs transcriptional activation. The L130F protein transactivated the luciferase reporter with 6× FOXC1 binding sites (BS) (above the graph) at residual levels. The data show mean luciferase values, normalized to Renilla luciferase, from a representative experiment carried out in triplicate. Error bars are the standard error of the mean. WT indicates wild type. Date of download: 10/22/2017 Copyright © 2007 American Medical Association. All rights reserved.

Copyright © 2007 American Medical Association. All rights reserved. From: Analyses of a Novel L130F Missense Mutation in FOXC1 Arch Ophthalmol. 2007;125(1):128-135. doi:10.1001/archopht.125.1.128 Figure Legend: Molecular models and scatterplot of in silico analysis of the L130F mutation in the FOXC1 (forkhead box C1) gene. The FOXC2-derived homology model of FOXC1 shows the protein backbone (ribbon), mutated residues (gray), and unmutated residues (white). The wild-type and mutant-equivalent models were submitted to an atomic nonlocal environment assessment (ANOLEA) Swiss model server. Energy differences are in E/kT units, where E represents energy; k, the Boltzmann constant; and T, absolute temperature. Date of download: 10/22/2017 Copyright © 2007 American Medical Association. All rights reserved.