title: Structure of the mutant fibrillin-1 gene in the tight skin (TSK) mouse.
abstract: 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.
authors.affiliation: Department of Microbiology, Mount Sinai School of Medicine, New York, USA.
authors.forename: C A
authors.initials: CA
authors.lastname: Bona
authors.forename: C
authors.initials: C
authors.lastname: Murai
authors.forename: S
authors.initials: S
authors.lastname: Casares
authors.forename: K
authors.initials: K
authors.lastname: Kasturi
authors.forename: H
authors.initials: H
authors.lastname: Nishimura
authors.forename: T
authors.initials: T
authors.lastname: Honjo
authors.forename: F
authors.initials: F
authors.lastname: Matsuda
mesh_terms: D000818:Animals; D002118:Calcium / Q000378:metabolism; D002874:Chromosome Mapping; D017931:DNA Primers; D018076:DNA, Complementary; D004815:Epidermal Growth Factor / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000378:metabolism; D000071838:Fibrillin-1; D000071837:Fibrillins; D005796:Genes; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D012867:Skin; D016212:Transforming Growth Factor beta / Q000235:genetics; D054392:Adipokines
chemical_list: D002118:Calcium; D017931:DNA Primers; D018076:DNA, Complementary; D004815:Epidermal Growth Factor; D016326:Extracellular Matrix Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D016212:Transforming Growth Factor beta; C000605724:Fbn1 protein, mouse; D054392:Adipokines