@article{Siracusa01041996,
author = {Siracusa, L D and McGrath, R and Ma, Q and Moskow, J J and Manne, J and Christner, P J and Buchberg, A M and Jimenez, S A}, 
title = {A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.},
volume = {6}, 
number = {4}, 
pages = {300-313}, 
year = {1996}, 
doi = {10.1101/gr.6.4.300}, 
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.}, 
URL = {http://genome.cshlp.org/content/6/4/300.abstract}, 
eprint = {http://genome.cshlp.org/content/6/4/300.full.pdf+html}, 
journal = {Genome Research} 
}