Journal Article

Structure of the Mutant Fibrillin-1 Gene in the Tight Skin (TSK) Mouse

Constantin A. Bona, Chihiro Murai, Sophia Casares, Kuppuswamy Kasturi, Hiroyuki Nishimura, Tasuku Honjo and Fumihiko Matsuda

in DNA Research

Published on behalf of Kazusa DNA Research Institute

Volume 4, issue 4, pages 267-271
Published in print January 1997 | ISSN: 1340-2838
Published online January 1997 | e-ISSN: 1756-1663 | DOI:

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Mice carrying the tight skin (TSK) mutation harbors a 3.0-kb genomic duplication (exons 17–40) of the fibrillin-1 gene (Fbn-1) locatedon 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 aciddifferences 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 C57Bl/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.

Keywords: tight skin mouse; fibrillin-1; duplication; DNA sequence

Journal Article.  0 words. 

Subjects: Genetics and Genomics

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