The retinal fascin gene 2 [FSCN2] - partial structural analysis and polymorphism detection in dogs with progressive retinal atrophy [PRA]

• Autorzy: Horak P , Knoll A , Dvorak J
• Języki publikacji: EN

Abstrakty

EN

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, the FSCN2 gene remains an excellent candidate gene for retinopathies in dogs and the results can contribute to further research in this field.

Słowa kluczowe

EN

polymorphism detection; Canis familiaris; animal genetics; FSCN2 gene; animal physiology; dog; retinitis pigmentosa; animal disease; retinal atrophy; pathology

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2006
• Tom: 47
• Numer: 4
• Opis fizyczny: p.361-364,fig.,ref.

Twórcy

autor

Horak P

• Laboratory of Animal Genomics, Institute of Animal Physiology and Genetics, Rumburska 89, 277 21 Libechov, Czech Republic

autor

Knoll A

• Laboratory of Animal Genomics, Institute of Animal Physiology and Genetics, Rumburska 89, 277 21 Libechov, Czech Republic

autor

Dvorak J

• Department of Animal Morphology, Physiology and Genetics, Mendel University of Agriculture and Forestry, Brno, Czech Republic

Bibliografia

• Adams JC, 2004. Roles of fascin in cell adhesion and motility. Curr Opin Cell Biol 16: 590-596.
• 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.
• 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.
• Saishin Y, Shimada S, Morimura H, Sato K, Ishimoto I, Tano Y, Tohyama M, 1997. Isolation of a cDNA encoding a photoreceptor cell-specific actin-bundling protein: retinal fascin. FEBS Lett 414: 381-386.
• 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.
• 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.
• 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.
• Yokokura S, Wada Y, Nakai S, Sato H, Yao R, Yamanaka H, et al. 2005. Targeted disruption of FSCN2 gene induces retinopathy in mice. Invest Ophthalmol Vis Sci 46: 2905-2915.
• 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).