http://purl.uniprot.org/citations/11806752 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/11806752 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/11806752 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundPatients with Opitz GBBB syndrome present with a variable array of developmental defects including craniofacial, cardiac, and genital anomalies. Mutations in the X-linked MID1 gene, which encodes a microtubule-binding protein, have been found in approximately 50% of Opitz GBBB syndrome patients consistent with the genetically heterogeneous nature of the disorder. A protein highly related to MID1, called MID2, has also been described that similarly associates with microtubules.ResultsTo identify protein partners of MID1 and MID2 we undertook two separate yeast two-hybrid screens. Using this system we identified Alpha 4, a regulatory subunit of PP2-type phosphatases and a key component of the rapamycin-sensitive signaling pathway, as a strong interactor of both proteins. Analysis of domain-specific deletions has shown that the B-boxes of both MID1 and MID2 mediate the interaction with Alpha 4, the first demonstration in an RBCC protein of a specific role for the B-box region. In addition, we show that the MID1/2 coiled-coil motifs mediate both homo- and hetero-dimerisation, and that dimerisation is a prerequisite for association of the MID-Alpha 4 complex with microtubules.ConclusionsOur findings not only implicate Alpha 4 in the pathogenesis of Opitz GBBB syndrome but also support our earlier hypothesis that MID2 is a modifier of the X-linked phenotype. Of further note is the observation that Alpha 4 maps to Xq13 within the region showing linkage to FG (Opitz-Kaveggia) syndrome. Overlap in the clinical features of FG and Opitz GBBB syndromes warrants investigation of Alpha 4 as a candidate for causing FG syndrome."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.org/dc/terms/identifier | "doi:10.1186/1471-2121-3-1"xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.org/dc/terms/identifier | "doi:10.1186/1471-2121-3-1"xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/author | "Yi Z."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/author | "Yi Z."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/author | "Hopwood B."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/author | "Hopwood B."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/author | "Cox T.C."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/author | "Cox T.C."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/author | "Short K.M."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/author | "Short K.M."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/name | "BMC Cell Biol."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/name | "BMC Cell Biol."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/pages | "1"xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/pages | "1"xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/title | "MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/title | "MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders."xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/volume | "3"xsd:string |
http://purl.uniprot.org/citations/11806752 | http://purl.uniprot.org/core/volume | "3"xsd:string |
http://purl.uniprot.org/citations/11806752 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11806752 |
http://purl.uniprot.org/citations/11806752 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11806752 |