title: [BIG-H3 protein: mutation of codon 124 and corneal amyloidosis].
abstract: In 1997, a group of hereditary corneal dystrophies was related to mutations in the TGFBI (BIGH3) gene. Within this group, some corneal dystrophies present particular biochemical features in that they are characterized by corneal amyloid deposition. Contrary to clinical and genetic knowledge, the biochemical characteristics of the encoded protein (Big-h3) and the mechanisms of its amyloid conversion remain unclear. We review the current knowledge on the Big-h3 protein and focus on the behavior of the codon 124 region. We discuss this protein's mechanisms of amyloid conversion from our results and previous reports as well as from other types of amyloidosis. These data provide a better understanding of the putative processes leading to the phenotypic variations linked with their respective codon 124 mutation.
authors.affiliation: Antigone Ophtalmologie, Montpellier. cf.schmitt-bernard@antigone-ophtalmologie.fr
authors.forename: C-F
authors.initials: CF
authors.lastname: Schmitt-Bernard
authors.forename: Y
authors.initials: Y
authors.lastname: Pouliquen
authors.forename: A
authors.initials: A
authors.lastname: Argilès
mesh_terms: D000595:Amino Acid Sequence; D000686:Amyloidosis / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D003062:Codon; D016326:Extracellular Matrix Proteins; D005136:Eye Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein