| First Author | Bona CA | Year | 1997 |
| Journal | DNA Res | Volume | 4 |
| Issue | 4 | Pages | 267-71 |
| PubMed ID | 9405934 | Mgi Jnum | J:45733 |
| Mgi Id | MGI:1195895 | Doi | 10.1093/dnares/4.4.267 |
| Citation | Bona CA, et al. (1997) Structure of the mutant fibrillin-1 gene in the tight skin (TSK) mouse. DNA Res 4(4):267-71 |
| abstractText | Mice carrying the tight skin (TSK) mutation harbors a 3.0-kb genomic duplication (exons 17-40) of the fibrillin-1 gene (Fbn-1) located on band F of chromosome 2 as TSK mutation. We cloned and sequenced the mutated Fbn-1 gene, since it is believed to be responsible for TSK syndrome. Sequence analysis showed numerous amino acid differences in the 5' and 3' segments between the TSK mutation and wild-type fbn-1 gene, but any amino acid difference between the TSK mutation and C57BL/6 mice. (TSK and C57B1/6 mice are genetically similar, differing only by TSK mutation.) Four amino acid differences were observed between two copies of TSK's fbn-1 gene encoded by exons 17-40. Our results suggest that the majority of structural differences occurred in the N and C termini segments during strain divergence and only a few after the duplication event. |
