| Abstract |
Fras1 gene, which is the first member of the recently discovered Fras1/Frem gene family, is related to blebbed phenotype in mice and human Fraser syndrome, α rare recessive autosomal disorder. The encoding protein is located in the extracellular matrix of the basement membrane of the mouse epithelial embryonic structures, but not the basement membrane of other cell types. The majority of Fras1 knock out mice die early at embryogenesis, but a small proportion can survive to adulthood. Mutant mice that die exhibit sub-epidermal hemorrhagic blisters and renal agenesis or dysplasia. Adult mutants display syndactyly and cryptophthalmos. These developmental anomalies characterize blebbed mice and Fraser syndrome human patients. Two more homologous to Fras1 genes have been discovered (Frem1 and Frem2), mutations of which are related to bleb phenotype. Frem3, an unmapped gene, homologous to Fras1, has not been ascribed to any bleb phenotype. In this project polyclonal antibodies for Frem1, Frem 2, Frem 3 proteins were prepared and used in immunohistochemical experiments for the immunolocalization of the above in mouse embryonic structures at various embryonic stages. They were located in epithelial structures like Fras1, as they comprise members of the same gene family. Frem1 and Frem2 display similar expression patterns, which indicate their possible interaction, while Frem3 is located intracellularly at similar epithelial structures. Immunolocalization of the above proteins can shed light to their action mechanism. Screening of cDNA phage libraries was also performed for the isolation of Frem3 cDNA, in order to provide us with the molecular tools for future transfection and protein interaction experiments.
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Μοριακός χαρακτηρισμός των πρωτεϊνών της οικογένειας Fras1/Frem
