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. 2012 Jul 13;21(20):4419–4430. doi: 10.1093/hmg/dds284

Figure 1.

Figure 1.

Polyadenylated DUX4-fl mRNA was expressed in cultures of myogenic cells derived from FSHD and control subjects. Schematic for DUX4 mRNA splicing and detection by RT-PCR based on the model (15) for (A) FSHD and (B) control cells. Locations of oligonucleotide primers are indicated with arrows. Nested RT-PCR analysis of polyadenylated DUX4 mRNA from CD56+ myogenic cells derived from biceps (bic) and deltoid (del) muscle biopsies for (C) cohort 09, (D) cohort 15, (E) cohort 16 and (F) cohort 20 following differentiation for 0 or 4 days, as indicated. All RT-PCRs were repeated at least three times, all products were sequenced and the presence of spliced DUX4-fl mRNA (arrow) was confirmed in cultures from FSHD subjects (09Adel, 9Abic, 15Abic, 15Bbic, 16Adel, 16Abic, 20Adel, 20Abic) and from control individuals not containing an FSHD D4Z4 contraction (16Udel, 16Ubic, 20Udel, 20Ubic). Gray boxes indicate DUX4-fl expression in unaffected cell cultures. RT–PCR for GAPDH mRNA expression controlled for integrity of the mRNA and first strand cDNA synthesis.