Location of the SNPs in the URE and the coding region of PU.1. (A) PU.1 is located in the centromeric part of chromosome 11p (band 11p11.2). (B) Organization of the PU.1 locus: The PU.1 gene consists of 5 exons (E1-E5), spanning 25 kb. The URE is located 17 kb upstream of the transcription start site. One SNP was identified within the DRU (DRU1), 3 SNPs are located within (PRU3) or close to the PRU (PRU1 and PRU2), 4 SNPs (PROM1 to 4) exist within the 625 bp of the PU.1 promoter just upstream of the translation start site, and 2 SNPs in intron 3 (SNPi3) and intron 4 (SNPi4) are just flanking exon 4. The ruler depicts distance from the PU.1 transcription start site. The location of each SNP is encoded with the last 4 digits of their position in the reference sequence with gene accession number cNT009237.17; eg, DHR1 is located at position 46194424. Previously described SNPs are marked with their accession numbers. (C) Allelic distribution is indicated for each SNP, with the observed incidence of the wild-type sequence (bottom part of the box) and the polymorphic sequence (top part of the box) indicated for each SNP.