A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.

Authors

Linda D. Siracusa, Thomas Jefferson UniversityFollow
Rodney McGrath, Thomas Jefferson University
Qing Ma, Thomas Jefferson UniversityFollow
John J. Moskow, Thomas Jefferson UniversityFollow
Jayanthi Manne, Thomas Jefferson UniversityFollow
Paul J. Christner, Thomas Jefferson University
Arthur M. Buchberg, Thomas Jefferson UniversityFollow
Sergio A. Jimenez, Thomas Jefferson UniversityFollow

Document Type

Article

Publication Date

4-1-1996

Comments

This article has been peer reviewed. It is the author’s final published version in Genome Research

Volume 6, Issue 4, April 1996, Pages 300-313.

Copyright © Cold Spring Harbor Laboratory Press

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.

Recommended Citation

Siracusa, Linda D.; McGrath, Rodney; Ma, Qing; Moskow, John J.; Manne, Jayanthi; Christner, Paul J.; Buchberg, Arthur M.; and Jimenez, Sergio A., "A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation." (1996). Department of Medicine Faculty Papers. Paper 190.
https://jdc.jefferson.edu/medfp/190

PubMed ID

8723723