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Comment
. 2008 Jul 1;22(13):1731-6.
doi: 10.1101/gad.1695808.

POT of gold: modeling dyskeratosis congenita in the mouse

Chantal Autexier  1
Affiliations
Comment

POT of gold: modeling dyskeratosis congenita in the mouse

Chantal Autexier. Genes Dev. .

Abstract

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.

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Figures

Figure 1.
Figure 1.
Telomere-shortening mouse models. (Top left panel) Telomerase deficiency (mTR−/− in a C57BL/6J genetic background with long telomeres) leads to progressive shortening. Telomerase deficiency (mTR−/− in a CAST/EiJ genetic background with short telomeres) also leads to progressive telomere shortening, though the final telomere lengths are shorter (cf. top panels). A POT1b deletion leads to accelerated telomere shortening due to excessive 5′ C-strand degradation. (Bottom left panel) Excessive C-strand degradation results in longer G-tails. (Bottom right panel) Telomeres are further shortened in the context of mTR heterozygosity.
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