| http://purl.uniprot.org/citations/10400990 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10400990 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10400990 | http://www.w3.org/2000/01/rdf-schema#comment | "Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by a combination of pigmentary and auditory abnormalities. Approximately 20% of WS2 cases are associated with mutations in the gene encoding microphthalmia-associated transcription factor (MITF). MITF plays a critical role in the development of both neural-crest-derived melanocytes and optic cup-derived retinal pigmented epithelium (RPE); the loss of a functional Mitf in mice results in complete absence of all pigment cells, which in turn induces microphthalmia and inner ear deafness. The black-eyed white Mitf mi-bw homozygous mouse normally has a pigmented RPE but lacks melanocytes essential for the pigmentation of the body and hearing. We show here that Mitf mi-bw is caused by an insertion into intron 3 of a 7.2 kb novel L1 element, L1bw, which belongs to an actively retrotransposing TF subfamily. The L1bw insertion reduces the amount of mRNAs for two Mitf isoforms, Mitf-A and Mitf-H, by affecting their overall expression levels and pre-mRNA splicing patterns, while it abolishes mRNA expression of another isoform, Mitf-M, which is specifically expressed in neural-crest-derived melanocytes. The consequence of the L1 insertion in the black-eyed white Mitf mi-bw mouse is that the developmental programme for RPE cells proceeds normally, most likely because of the presence of residual, full-length Mitf-A and Mitf-H proteins, whereas the lack of Mitf-M results in loss of the melanocyte population. The results suggest that melanocyte development depends critically on a single Mitf isoform, Mitf-M, and raise the possibility that specific mutations affecting MITF-M, the human equivalent of Mitf-M, may be responsible for a subset of WS2 conditions."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/8.8.1431"xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/8.8.1431"xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Kimura T."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Kimura T."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Sato S."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Sato S."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Yamamoto H."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Yamamoto H."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Yasumoto K."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Yasumoto K."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Shibahara S."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Shibahara S."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Goding C.R."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Goding C.R."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Yajima I."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Yajima I."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/author | "Goding R.C."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/10400990 | http://purl.uniprot.org/core/pages | "1431-1441"xsd:string |