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Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption

Figure 3

Functional analysis.

Results of functional studies of two putative PTH1R splice mutations by minigene reporter analysis. (A) Schematic location of the two putative splice mutations and the observed exon skipping, indicated by dotted lines. The two mutations are for graphical reasons depicted on the same figure, but are obviously located on separate constructs (B). Sequencing results of normal cDNA minigene transcript and of cDNA from the c.544-26_544-23 (ID: F3) and c.989G>T (ID: F1) minigene transcripts, demonstrating complete skipping of exon 8 and exon 11, respectively. (C) Both normal and irregular splicing is observed for the normal allele in both analyses indicating that native exon 8 and 11 have weak 3′-splice sites. The putative branch point mutation c.544-26_544-23 results in complete skipping of exon 8 whereas the c.989G>T splice site mutation results in complete skipping of exon 11.

Figure 3

doi: https://doi.org/10.1371/journal.pone.0074601.g003