Figure 1

Gene structure of PIPSL and its polymorphisms. The aqua arrows between top two bars mark the correspondence between two parental genes and PIPSL. "ATG" and "TAG" in black indicate the border of the ORF. It is almost the complete fusion product of PIP5K1A and PSMD4, although the original start codon (the boxed "ATG" in rose) was destroyed due to a human specific deletion [13]. The distance between this original start codon and the current assumed start codon is only 60 bps. The left-hand and right-hand pale blocks mark the sequenced promoter region and 3' UTR region, respectively. The gold arrows indicate from which region polymorphisms are, like 5' UTR, coding region and 3' UTR. "Segregating sites" show the ID of polymorphisms. "Reference position" indicates the position relative to the starting point of sequenced reads. The first base corresponds to 592 bp upstream relative to the transcription start site of PIPSL. "Reference sequence" marks the consensus sequence in those locations with "D" indicating deletions relative to the consensus, with the nucleotides deleted shown in individuals. Letters in uppercase indicate homozygous mutations, while letters in lowercase indicate heterozygous mutations. "031","032" and so on indicate ID of samples. Herein, 031~040, 041~049, 820~914 and 014~089 are samples from African American, Africans in the south of the Sahara, Russian and Chinese, respectively.