title: Evaluation of SFRP1 as a candidate for human retinal dystrophies.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  Three polymorphic variants were identified.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Genetics, Fundación Jimenez Diaz, Madrid, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Garcia-Hoyos
authors.forename: Diego
authors.initials: D
authors.lastname: Cantalapiedra
authors.forename: Carolina
authors.initials: C
authors.lastname: Arroyo
authors.forename: Pilar
authors.initials: P
authors.lastname: Esteve
authors.forename: Josana
authors.initials: J
authors.lastname: Rodríguez
authors.forename: Rosa
authors.initials: R
authors.lastname: Riveiro
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: Carmen
authors.initials: C
authors.lastname: Ramos
authors.forename: Paola
authors.initials: P
authors.lastname: Bovolenta
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012162:Retinal Degeneration / Q000235:genetics*; D000094742:Secreted Frizzled-Related Proteins
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D005136:Eye Proteins; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C117636:SFRP1 protein, human; D000094742:Secreted Frizzled-Related Proteins; C109618:SFRP2 protein, human; C118511:SFRP5 protein, human