Figure 1

Alignment of nucleotide variant 8 (Table 1) and major haplotypes. A) Variant 8, located in intron 3 of OAZ3 was present in the long form (HUMAN L) in haplotype 5, and the short form (HUMAN S) in haplotype 12. Gorilla and chimpanzee sequences shown for reference. B) Alignment of the three major haplotypes, 5, 9, and 12. The position of the long or short allele shown in A is inserted as an "L" or "S" at the appropriate position. The positions unique to haplotypes 5 and 12 are colored in green or red, respectively. The figure depicts how the third major haplotype, 9, may have originated from both gene conversion and recombination between haplotypes 5 and 12. The alternate nucleotides present in each haplotype are identified in Figure 3.