Characteristics of the 79T > C MIR133A2 variant. (A) Sequence electropherograms with arrows indicating normal 79T allele (top panel) and variant 79C allele (lower panel). (B) Family KB pedigree. Phenotypes are indicated as: AF (solid symbols), no AF (open symbols). The presence (+) or absence (−) of the 79T > C MIR133A2 variant is shown and the family proband is indicated by an arrow. (C) Stem-loop region of precursor miR-133a-2 transcript depicting the most abundant human isomiRs for miR-133a-3p (green) and miR-133a-5p (blue) with seed regions indicated (bold). The 79T > C variant (red) is located at the 3′end of miR-133a-3p directly adjacent to the Drosha cleavage site. (D) Northern blot probed with miR-133a-3p (top panel) and miR-133a-5p (lower panel) showing expression levels of 79T and 79C alleles. Mean data for triplicates of each sample are indicated on bar graphs with 79C values expressed relative to 79T values. *P <0.05 when compared to 79T.
Ohanian et al. BMC Genetics 2013 14:18 doi:10.1186/1471-2156-14-18