title: Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.
abstract: The LMX1B gene, encoding a protein involved in limb, kidney and eye development, is mutated in patients affected by Nail-Patella syndrome. Inter- and intrafamilial variability is common in this disorder for skeletal abnormalities, presence and severity of nephropathy and ocular anomalies. Phenotypic variability might depend on interactions of the LMX1B causative gene with other genes during development of both kidney and eye, which might act as modifier genes. Results are presented on the interaction between LMX1B and PAX2 proteins, obtained by both direct yeast two-hybrid assay and coimmunoprecipitation. Such interaction provides support to further studies on pathways underlying important developmental processes.
authors.affiliation: Laboratory of Molecular Genetics, G Gaslini Institute, Genova, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Marini
authors.forename: Francesca
authors.initials: F
authors.lastname: Giacopelli
authors.forename: Marco
authors.initials: M
authors.lastname: Seri
authors.forename: Roberto
authors.initials: R
authors.lastname: Ravazzolo
mesh_terms: D000818:Animals; D019556:COS Cells; D002522:Chlorocebus aethiops; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000502:physiology; D018398:Homeodomain Proteins / Q000235:genetics* / Q000502:physiology; D006801:Humans; D047468:Immunoprecipitation; D060850:LIM-Homeodomain Proteins; D009261:Nail-Patella Syndrome / Q000235:genetics*; D051762:PAX2 Transcription Factor; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics* / Q000502:physiology; D020798:Two-Hybrid System Techniques; D015003:Yeasts
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors