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Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4  S. Amer Riazuddin, Shivakumar Vasanth,

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Presentation on theme: "Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4  S. Amer Riazuddin, Shivakumar Vasanth,"— Presentation transcript:

1 Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4  S. Amer Riazuddin, Shivakumar Vasanth, Nicholas Katsanis, John D. Gottsch  The American Journal of Human Genetics  Volume 93, Issue 4, Pages (October 2013) DOI: /j.ajhg Copyright © 2013 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Family DA Cyrillic Pedigrees Showing Haplotype, Alleles of Chromosomal Arm 3p and 15q STR Markers, and the Presence of the c.3082C>T Variant Identified in AGBL1 (A) Alleles forming haplotypes at chromosomal arm 3p. (B) Alleles forming haplotypes at chromosomal arm 15q. Filled symbol: affected individual. Diagonal line through a symbol: deceased individual. Black bars: alleles forming the disease-bearing haplotype. Note: A dot represents an individual who possesses less than 12 central guttae in one or both eyes and who therefore cannot be graded “1” on the Krachmer scale. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Immunohistochemical Analyses of AGBL1 in 10 μm Cryosections of Human Cornea from a Patient Who Had Undergone Corneal Transplantation For examination of AGBL1 expression in corneal endothelium, cornea sections were stained with (A) DAPI and (B) AGBL1 antibody, whereas control slides were stained only with (E) DAPI and (F) the secondary antibody. (C and G) Merged view of images shown in (A) and (B) and in (D) and (E), respectively. (D and H) Enlarged images of boxed areas in (C) and (G). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

4 Figure 3 The AGBL1 Nonsense Variant Is Enriched in the Nucleus
NIH 3T3 cells were transfected with plasmids encoding Flag-tagged wild-type AGBL1 and with the two mutants, p.Cys990Ser and p.Arg1028∗. Cells were stained with anti-Flag antibody (A, D, G) and DAPI (B, E and H) and co-localization was visualized by merging the two images (C, F, and I). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

5 Figure 4 AGBL1 Interacts with a Previously Identified Fuchs Locus, TCF4 (A) HEK293 cells were transfected with Flag-AGBL1 and tested for its interaction with either Myc-TCF4 or Myc-TCF8, as shown. Immunoprecipitated lysates suggested that AGBL1 specifically interacts with TCF4 and not with TCF8. (B) HEK293 cells were cotransfected with TCF4 and AGBL1 wild-type construct and two variants. The two AGBL1 mutants, p.Cys990Ser and pArg1028∗, interact with TCF4; however, the amount of immunoprecipitated protein is diminished significantly in comparison to wild-type AGBL1, despite the higher protein amounts of mutant AGBL1. Note: The asterisk in panels (A) and (B) indicates the heavy chain of IgG antibody that was used for immunoprecipitation. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

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