Figure 4.

The refined HHT3 interval. The original HHT3 interval was between microsatellite markers D5S2011 and D5S2490, and uninformative between D5S2011-D5S402 and D5S2490-D5S436 (black dotted bars) in key individuals II.1, II.3 and II.9 [35]. Informative genomic variations used in fine mapping reduced the extent of the uninformative regions (grey bars, see Figure 1B). The refined HHT3 interval is sited between a novel SNP within FGF1 intron 1, and rs11958187 within PPP2R2B intron 4. Black bars indicate the definite recombination events that defined the interval in the denoted individuals. Fine mapping, by reducing the interval, excluded 12 interval genes as shown in the lower Ensembl genome browser image of candidate genes (genes no longer in the interval are denoted by orange dotted boxes; Mb: mega bases).