Evaluation of SFRP1 as a candidate for human retinal dystrophies

Secreted Frizzled Related Proteins (SFRPs) are soluble molecules capable of modulating Wnt signalling. Different lines of evidence indicate that SFRP activity is related with the development and function of the retina photoreceptor cells as well as with their apoptotic degeneration associated with t...

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Bibliographic Details
Published in:Molecular vision 2004-06, Vol.10, p.426-431
Main Authors: Garcia-Hoyos, Maria, Cantalapiedra, Diego, Arroyo, Carolina, Esteve, Pilar, Rodríguez, Josana, Riveiro, Rosa, Trujillo, Maria José, Ramos, Carmen, Bovolenta, Paola, Ayuso, Carmen
Format: Article
Language:English
Subjects:
DNA Mutational Analysis
Eye Proteins - genetics
Female
Humans
Intercellular Signaling Peptides and Proteins - genetics
Male
Membrane Proteins - genetics
Mutation
Pedigree
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Retinal Degeneration - genetics
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Summary:Secreted Frizzled Related Proteins (SFRPs) are soluble molecules capable of modulating Wnt signalling. Different lines of evidence indicate that SFRP activity is related with the development and function of the retina photoreceptor cells as well as with their apoptotic degeneration associated with the onset of different cases of retinal dystrophy (RD). Because the genetic causes of many retinal dystrophies still need to be determined, we have asked whether mutations in the SFRP genes might be associated with retinal dystrophies. Here we describe the genomic structure of SFRP1, SFRP2, and SFRP5 and a mutational screening of SFRP1 in 325 individuals affected by various non X-linked forms of inherited retinal disorders. Three polymorphic variants were identified. Our data, so far, exclude SFRP1 as a molecular cause of RD, since two out of three genetic variants of the gene were present in both RD patients and normal population.
ISSN:1090-0535