SORBS2 transcription is activated by telomere position effect–over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

Gene expression analysis of MYOD1 and TMEM8C. RNA was isolated from 1 × 10⁶ cells and cDNAs made in triplicate. ddPCR results are expressed as the number of molecules detected in a 12.5-ng RT input; values shown as averages ± standard error of the mean (assay done in duplicate using three cohorts of matched siblings from two biopsies; total of 12 measures per condition). MYOD1 expression does not depend on telomere length (long versus short) nor disease status (control versus FSHD) using the Holm-Sidak's multiple comparisons test (alpha = 0.05). In myoblasts, TMEM8C expression increased in FSHD cells with short telomeres when compared to control myoblast with long telomeres (adjusted P-value = 0.0178; Holm-Sidak's multiple comparisons test) or FSHD myoblast with long telomeres (adjusted P-value = 0.0178; Holm-Sidak's multiple comparisons test).