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Sökning: WFRF:(Gong A) > (2000-2004) > Bfsp2 mutation foun...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04577naa a2200793 4500 | |
| 001 | oai:gup.ub.gu.se/66589 | |
| 003 | SwePub | |
| 008 | 240528s2004 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/665892 URI |
| 024 | 7 | a https://doi.org/10.1016/j.exer.2003.09.0282 DOI |
| 040 | a (SwePub)gu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Sandilands, Aileen4 aut |
| 245 | 1 0 | a Bfsp2 mutation found in mouse 129 strains causes the loss of CP49' and induces vimentin-dependent changes in the lens fibre cell cytoskeleton. |
| 264 | 1 | b Elsevier BV,c 2004 |
| 520 | a Here we report the first natural mutation in the mouse Bfsp2 gene. Characterisation of mouse Bfsp2 in the 129X1/SvJ revealed a mutation that deleted the acceptor site of exon 2. This results in exon 1 being erroneously spliced to exon 3 causing a frameshift in the reading frame and the introduction of a stop codon at position 2 of exon 3 in the Bfsp2 transcript. RT-PCR studies of lens RNA isolated from 129S1/SvImJ, 129S2/SvPas and 129S4/SvJae strains confirmed the presence of this mutation in these diverse 129 strains and similar mutations were found in both CBA and 101 strains, but not in C3H or C57BL/6J mouse strains. This mutation is predicted to result in a severely truncated protein product called CP49, comprising essentially only exon 1, but polyclonal antibodies to CP49 failed to detect either full length or fragments of CP49 in extracts made from either 129S1/SvImJ or 129S4/SvJae suggesting that these 129 strains lack CP49 protein. Like the knockout of Bfsp2 reported recently, filensin protein levels and its proteolytic processing were altered also in the 129S1/SvImJ and 129S4/SvJae strains compared to C57BL/6J. Electron microscopy of the lens cytoskeleton from 129S2/SvPas revealed similar morphological changes in the cytoskeleton as compared to the CP49 knockout, with beaded and intermediate filaments being apparently replaced by poorly defined filament-like material. Vimentin was a key component of this residual material as shown by immunoelectron microscopy and by the generation of a CP49/vimentin double knockout mouse. This report of a natural mutation in Bfsp2 in the 129 and other mouse strains also has important implications for lens studies that have used the 129X1/SvJ strain in knockout strategies. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Fysiologi0 (SwePub)301062 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Physiology0 (SwePub)301062 hsv//eng |
| 653 | a Animals | |
| 653 | a Base Sequence | |
| 653 | a Blotting | |
| 653 | a Northern | |
| 653 | a methods | |
| 653 | a Blotting | |
| 653 | a Southern | |
| 653 | a methods | |
| 653 | a Cytoskeleton | |
| 653 | a metabolism | |
| 653 | a ultrastructure | |
| 653 | a Eye Proteins | |
| 653 | a genetics | |
| 653 | a Frameshift Mutation | |
| 653 | a Gene Deletion | |
| 653 | a Intermediate Filament Proteins | |
| 653 | a genetics | |
| 653 | a Lens | |
| 653 | a Crystalline | |
| 653 | a metabolism | |
| 653 | a ultrastructure | |
| 653 | a Mice | |
| 653 | a Mice | |
| 653 | a Knockout | |
| 653 | a Mice | |
| 653 | a Mutant Strains | |
| 653 | a Microscopy | |
| 653 | a Electron | |
| 653 | a Molecular Sequence Data | |
| 653 | a Polymerase Chain Reaction | |
| 653 | a methods | |
| 653 | a Vimentin | |
| 653 | a genetics | |
| 653 | a metabolism | |
| 700 | 1 | a Wang, Xin4 aut |
| 700 | 1 | a Hutcheson, Aileen M4 aut |
| 700 | 1 | a James, John4 aut |
| 700 | 1 | a Prescott, Alan R4 aut |
| 700 | 1 | a Wegener, Alfred4 aut |
| 700 | 1 | a Pekny, Milos,d 1965u Gothenburg University,Göteborgs universitet,Institutionen för medicinsk och fysiologisk kemi,Institute of Medical Biochemistry4 aut0 (Swepub:gu)xpekmi |
| 700 | 1 | a Gong, Xiahou4 aut |
| 700 | 1 | a Quinlan, Roy A4 aut |
| 710 | 2 | a Göteborgs universitetb Institutionen för medicinsk och fysiologisk kemi4 org |
| 773 | 0 | t Experimental eye researchd : Elsevier BVg 78:4, s. 875-89q 78:4<875-89x 0014-4835 |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/66589 |
| 856 | 4 8 | u https://doi.org/10.1016/j.exer.2003.09.028 |
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