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.
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Acknowledgements
This work was supported by grants from the Italian Ministry of University-FIRB to RR and the Italian Ministry of Health to RR. The secretarial assistance of Mrs Loredana Velo is greatly acknowledged.
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Marini, M., Giacopelli, F., Seri, M. et al. Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail–Patella syndrome. Eur J Hum Genet 13, 789–792 (2005). https://doi.org/10.1038/sj.ejhg.5201405
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DOI: https://doi.org/10.1038/sj.ejhg.5201405
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