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GENES & DEVELOPMENT 22:1731-1736, 2008
©2008 by Cold Spring Harbor Laboratory Press; ISSN 0890-9369/ $5.00
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POT of gold: modeling dyskeratosis congenita in the mouse

Chantal Autexier1

Department of Anatomy and Cell Biology and Department of Medicine, McGill University, Montreal, Quebec H3T 1E2, Canada

Dyskeratosis congenita (DC) is a rare syndrome, characterized by cutaneous abnormalities and premature death caused by bone marrow failure. In this issue of Genes & Development, Hockemeyer and colleagues (pp. 1773–1785) report a new mouse model that reconstitutes key features of DC. Disease phenotypes are generated by a POT1b deletion in a telomerase-deficient background that accelerates the shortening of telomeres by degradation.

[Keywords: Bone marrow failure; dyskeratosis congenita; POT1; shelterin; telomere; telomerase]

1 Correspondence.

E-MAIL chantal.autexier{at}mcgill.ca; FAX (514) 340-8295.

Article is online at http://www.genesdev.org/cgi/doi/10.1101/gad.1695808.


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Related Article

Engineered telomere degradation models dyskeratosis congenita
Dirk Hockemeyer, Wilhelm Palm, Richard C. Wang, Suzana S. Couto, and Titia de Lange
Genes & Dev. 2008 22: 1773-1785. [Abstract] [Full Text] [PDF]





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