PURPOSE: 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.
PURPOSE: 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: N V Strunnikova; A Maminishkis; J J Barb; F Wang; C Zhi; Y Sergeev; W Chen; A O Edwards; D Stambolian; G Abecasis; A Swaroop; P J Munson; S S Miller Journal: Hum Mol Genet Date: 2010-04-01 Impact factor: 6.150
Authors: Brune Trevant; Tripti Gaur; Sadiq Hussain; John Symons; Barry S Komm; Peter V N Bodine; Gary S Stein; Jane B Lian Journal: J Cell Physiol Date: 2008-10 Impact factor: 6.384
Authors: Margaret S Joesting; Thomas R Cheever; Katherine G Volzing; Terry P Yamaguchi; Vladimir Wolf; Dieter Naf; Jeffrey S Rubin; Paul C Marker Journal: Dev Biol Date: 2008-02-26 Impact factor: 3.582
Authors: Amy K Kiefer; Joyce Y Tung; Chuong B Do; David A Hinds; Joanna L Mountain; Uta Francke; Nicholas Eriksson Journal: PLoS Genet Date: 2013-02-28 Impact factor: 5.917