Skip to main content
. 2003 Jul 8;100(15):8993–8998. doi: 10.1073/pnas.1432927100

Fig. 1.

Fig. 1.

PPP3CC gene locus. (A) The location of the PPP3CC gene in the 8p21.3 region is depicted in relation to relevant markers from linkage studies. D8S136 (13); D8S1771 (15, 16); D8S1752 (15); and D8S1715 and D8S133 (14). (B) An expanded view of the PPP3CC gene is presented, including the exon/intron structure and the locations of the SNPs used for our association studies and of the coding sequence mutation identified in exon 5. This mutation changes a G to an A at position 824 of the mRNA (GenBank accession no. NM_005605). Distances and positions in this figure are according to the November 2002 human draft sequence. (C) Haplotype distribution and transmission at the PPP3CC locus. Only four haplotypes with frequencies ≥5% were observed in both U.S. and SA samples and are shown here. The most common PPP3CC haplotype is consistently overtransmitted in both samples. T/nT, transmitted/nontransmitted.