PMID- 17132901 OWN - NLM STAT- MEDLINE DCOM- 20070212 LR - 20181113 IS - 1234-1983 (Print) IS - 1234-1983 (Linking) VI - 47 IP - 4 DP - 2006 TI - The retinal fascin gene 2 (FSCN2)--partial structural analysis and polymorphism detection in dogs with progressive retinal atrophy (PRA). PG - 361-4 AB - 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. FAU - Horak, Pavel AU - Horak P AD - Laboratory of Animal Genomics, Institute of Animal Physiology and Genetics, Rumburska 89, 277 21 Libechov, Czech Republic. horakpav@email.cz FAU - Knoll, Ales AU - Knoll A FAU - Dvorak, Josef AU - Dvorak J LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - J Appl Genet JT - Journal of applied genetics JID - 9514582 RN - 0 (Carrier Proteins) RN - 0 (Microfilament Proteins) RN - 146808-54-0 (fascin) SB - IM MH - Animals MH - Carrier Proteins/*genetics MH - Dog Diseases/*genetics MH - Dogs MH - Exons MH - Introns MH - Microfilament Proteins/*genetics MH - *Polymorphism, Genetic MH - Polymorphism, Restriction Fragment Length MH - Retinitis Pigmentosa/genetics/*veterinary EDAT- 2006/11/30 09:00 MHDA- 2007/02/13 09:00 CRDT- 2006/11/30 09:00 PHST- 2006/11/30 09:00 [pubmed] PHST- 2007/02/13 09:00 [medline] PHST- 2006/11/30 09:00 [entrez] AID - 362 [pii] AID - 10.1007/BF03194646 [doi] PST - ppublish SO - J Appl Genet. 2006;47(4):361-4. doi: 10.1007/BF03194646.