| First Author | Matysiak-Scholze U | Year | 1997 |
| Journal | Genomics | Volume | 43 |
| Issue | 1 | Pages | 78-84 |
| PubMed ID | 9226375 | Mgi Jnum | J:41653 |
| Mgi Id | MGI:894183 | Doi | 10.1006/geno.1997.4757 |
| Citation | Matysiak-Scholze U, et al. (1997) The structural integrity of ROR alpha isoforms is mutated in staggerer mice: cerebellar coexpression of ROR alpha1 and ROR alpha4. Genomics 43(1):78-84 |
| abstractText | The recessive mouse mutation staggerer (sg) disturbs the normal development of cerebellar Purkinje cells and affects certain functions of the immune system. To identify the causative gene, we constructed high- resolution genetic and physical maps of the staggerer locus on mouse chromosome 9. The transcription unit of the orphan nuclear receptor ROR alpha was identified in the critical interval. Our mutational analysis confirms a recent report that the sg phenotype may be caused by a genomic deletion in the common coding region of the ROR alpha isoforms. Of the four different isoforms of the ROR alpha gene that are generated by a combination of alternative promoter usage and exon splicing that differ in their DNA-binding properties, isoforms ROR alpha 1 and ROR alpha 4 are specifically coexpressed in the murine cerebellum and human cerebellum. Thus, at least two isoforms of the murine ROR alpha gene are affected by the genomic deletion associated with the staggerer phenotype. Our finding of cerebellum-specific coregulation suggests that distinct sets of target genes regulated by the ROR alpha 1 and ROR alpha 4 isoforms are required for Purkinje cell development. (C) 1997 Academic Press. |
