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A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.
- Source :
- Department of Medicine Faculty Papers
- Publication Year :
- 1996
-
Abstract
- Mice carrying the Tight skin (Tsk) mutation have thickened skin and visceral fibrosis resulting from an accumulation of extracellular matrix molecules. These and other connective tissue abnormalities have made Tskl + mice models for scleroderma, hereditary emphysema, and myocardial hypertrophy. Previously we localized Tsk to mouse chromosome 2 in a region syntenic with human chromosome 15. The microfibrillar glycoprotein gene, fibrillin 1 (FBN1), on human chromosome 15q, provided a candidate for the Tsk mutation. We now demonstrate that the Tsk chromosome harbors a 30- to 40-kb genomic duplication within the Fbn1 gene that results in a larger than normal in-frame Fbn1 transcript. These findings provide hypotheses to explain some of the phenotypic characteristics of Tskl + mice and the lethality of Tsk/Tsk embryos.
Details
- Database :
- OAIster
- Journal :
- Department of Medicine Faculty Papers
- Notes :
- Siracusa, Linda D., McGrath, Rodney, Ma, Qing, Moskow, John J., Manne, Jayanthi, Christner, Paul J., Buchberg, Arthur M., Jimenez, Sergio A.
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.ocn979566150
- Document Type :
- Electronic Resource