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Diminished Telomeric 3′ Overhangs Are Associated with Telomere Dysfunction in Hoyeraal-Hreidarsson Syndrome

Figure 7

Diminished telomeric overhang length in the HHS-affected cells.

(A) Four µg samples of genomic DNA prepared from control (unaffected) primary skin fibroblasts were treated with DSN, electrophoresed side by side in a denaturing 4–8% gradient polyacrylamide gel, and transferred onto a membrane, which was then cut and hybridized simultaneously with a G-rich and a C-rich probe. As controls we used one sample that was treated with 80 units of exonuclease I overnight prior to the DSN digestion (ExoI), and 60 ng samples of DNA, treated or untreated with exonuclease I but not with DSN. (B) Five µg samples of genomic DNA prepared from blood leukocytes taken from the HHS-affected patient (S2), unaffected individual (C), and an unrelated DC patient (DC) were treated with DSN, electrophoresed alongside untreated samples of 200 ng DNA, and blotted and hybridized with a C-rich probe as in (A).

Figure 7