Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome

Monica Marini, Francesca Giacopelli, Marco Seri, Roberto Ravazzolo

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)789-792
Number of pages4
JournalEuropean Journal of Human Genetics
Volume13
Issue number6
DOIs
Publication statusPublished - Jun 2005

Keywords

  • LMX1B
  • Modifier gene
  • Nail-Patella syndrome
  • PAX2
  • Phenotype variability

ASJC Scopus subject areas

  • Genetics(clinical)

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