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The retinal fascin gene 2 (FSCN2) — partial structural analysis and polymorphism detection in dogs with progressive retinal atrophy (PRA)

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Abstract

The retinal fascin 2 gene (FSCN2) underwent a molecular analysis, a search for polymorphisms and an evaluation as a candidate gene for retinopathies in dogs. Specific fragments of the gene encompassing partial exon 1 and intron 1, and exons 2–5 with respective introns were sequenced and these data were deposited in the GenBank database. Three distinct polymorphic sites detectable with PCR-RFLP were found — AM050719: g.237G > A, AM050719: g.525A > G, and AM050720: g. 1071A > G. No positive associations between these polymorphisms and the PRA-clinical status were observed in the investigated population consisting of Poodles, American Cocker Spaniels, and English Cocker Spaniels. In spite of that, theFSCN2 gene remains an excellent candidate gene for retinopathies in dogs and the results can contribute to further research in this field.

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References

  • Adams JC, 2004. Roles of fascin in cell adhesion and motility. Curr Opin Cell Biol 16: 590–596.

    Article  CAS  PubMed  Google Scholar 

  • Aguirre GD, Acland GM, 2006. Models, mutants, and man: Searching for unique phenotypes and genes in the dog model of inherited retinal degeneration. In: Ostrander EA, Giger U, Lindblad-Toh K, eds. The Dog and its Genome. Cold Spring Harbor Laboratory Press, New York: 291–325.

    Google Scholar 

  • Lin CT, Gould DJ, Petersen-Jones SM, Sargan DR, 2002. Canine inherited retinal degenerations: update on molecular genetics research and its clinical application. J Small Anim Pract 43: 426–432.

    Article  CAS  PubMed  Google Scholar 

  • Saishin Y, Shimada S, Morimura H, Sato K, Ishimoto I, Tano, Y, Tohyama M, 1997. Isolation of a cDNA encoding a photoreceptor cell-specific actinbundling protein: retinal fascin. FEBS Lett 414: 381–386.

    Article  CAS  PubMed  Google Scholar 

  • Saishin Y, Ishikawa R, Ugawa S, Guo W, Ueda T, Morimura H, et al. 2000. Retinal fascin: functional structure, subcellular distribution, and chromosomal localization. Invest Ophthalmol Vis Sci 41: 2087–2095.

    CAS  PubMed  Google Scholar 

  • Tubb BE, Bardien-Kruger S, Kashork CD, Shaffer LG, Ramagli LS, Xu J, et al. 2000. Characterization of human retinal fascin gene (FSCN2) at 17q25: Close physical linkage of fascin and cytoplasmic actin genes. Genomics 35: 146–156.

    Article  Google Scholar 

  • Wada Y, Toshiaky A, Takeshita T, Sato H, Yanashima K, Tamai M, 2001. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 42: 2395–2400.

    CAS  PubMed  Google Scholar 

  • Yokokura S, Wada Y, Nakai S, Sato H, Yao R, Yamanaka H, et al. 2005. Targeted disruption ofFSCN2 gene induces retinopathy in mice. Invest Ophthalmol Vis Sci 46: 2905–2915.

    Article  PubMed  Google Scholar 

  • Zangerl B, Goldstein O, Philp AR, Lindauer SJP, Pearce-Kelling SE, Mullins RF, et al. 2006. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics (in press).

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Correspondence to Pavel Horák.

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Horák, P., Knoll, A. & Dvořák, J. The retinal fascin gene 2 (FSCN2) — partial structural analysis and polymorphism detection in dogs with progressive retinal atrophy (PRA). J Appl Genet 47, 361–364 (2006). https://doi.org/10.1007/BF03194646

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  • DOI: https://doi.org/10.1007/BF03194646

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