| http://purl.uniprot.org/citations/10749990 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10749990 | http://www.w3.org/2000/01/rdf-schema#comment | "Exon shuffling is thought to be an important mechanism for evolution of new genes. Here we show that the mouse neurological mutation flailer (flr) expresses a novel gene that combines the promoter and first two exons of guanine nucleotide binding protein beta 5 (Gnb5) with the C-terminal exons of the closely linked Myosin 5A (MyoVA) gene (Myo5a). The flailer protein, which is expressed predominantly in brain, contains the N-terminal 83 amino acids of Gnb5 fused in-frame with the C-terminal 711 amino acids of MyoVA, including the globular tail domain that binds organelles for intracellular transport. Biochemical and genetic studies indicate that the flailer protein competes with wild-type MyoVA in vivo, preventing the localization of smooth endoplasmic reticulum vesicles in the dendritic spines of cerebellar Purkinje cells. The flailer protein thus has a dominant-negative mechanism of action with a recessive mode of inheritance due to the dependence of competitive binding on the ratio between mutant and wild-type proteins. The chromosomal arrangement of Myo5a upstream of Gnb5 is consistent with non-homologous recombination as the mutational mechanism. To our knowledge, flailer is the first example of a mammalian mutation caused by germ line exon shuffling between unrelated genes."xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/9.5.821"xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/author | "Jones J.M."xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/author | "Copeland N.G."xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/author | "Jenkins N.A."xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/author | "Mooseker M.S."xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/author | "Meisler M.H."xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/author | "Hamilton B.A."xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/author | "Mermall V."xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/author | "Escayg A."xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/author | "Huang J.D."xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/pages | "821-828"xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/title | "The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a."xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://purl.uniprot.org/core/volume | "9"xsd:string |
| http://purl.uniprot.org/citations/10749990 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10749990 |
| http://purl.uniprot.org/citations/10749990 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10749990 |
| http://purl.uniprot.org/uniprot/Q99104#attribution-1673055E2AADA3C5984AD150AF1D84FB | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/10749990 |
| http://purl.uniprot.org/uniprot/#_A0A1L1STC5-mappedCitation-10749990 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10749990 |
| http://purl.uniprot.org/uniprot/#_D3YZ62-mappedCitation-10749990 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10749990 |
| http://purl.uniprot.org/uniprot/#_A0A510NUK5-mappedCitation-10749990 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10749990 |
| http://purl.uniprot.org/uniprot/#_A2ALT1-mappedCitation-10749990 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10749990 |
| http://purl.uniprot.org/uniprot/#_A2ALT2-mappedCitation-10749990 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10749990 |