Figure 3 |. der(13) results in a PDK3-MAB21L1 fusion transcript and MAB21L1 silencing.
a, (top) Idiogram showing the intact chromosomes 13 and X, as well as the derivative chromosomes 13 and X in the proband. Translocation breakpoints, and the location of the genes PDK3 and MAB21L1 are highlighted. (bottom) CpG methylation, chromatin accessibility, and full-length transcript data selectively on the der(13) haplotype are displayed, highlighting the formation of a fusion transcript between PDK3 and MAB21L1. b, (top) CpG methylation differences at the MAB21L1 promoter between chr13int and der(13) demonstrating selective hyper-CpG methylation of the MAB21L1 promoter along der(13). (below) Allelic imbalance of full-length MAB21L1 transcripts between chr13int and der(13) demonstrating silencing of MAB21L1 along der(13). c, Schematic for transcriptional readthrough silencing of the MAB21L1 gene selectively along der(13).