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The Human SDF1 Gene Polymorphism Is Located on a Mutational Hot Spot that Was Identified by the Hominoid Genome Study

Nucleotide sequences of a part of the stromal cell-derived factor-1 (SDF-1) gene 3´ untranslated region were studied among hominoids (chimpanzees, gorillas, orangutans and gibbons). An identical sequence to the human SDF1-3´G allele was found in chimpanzees and gibbons, whereas that to the 3´A allele was found in gorillas. Based on the sequence data and the hominoid phylogenetic relation, it was suggested that an adenine nucleotide at nucleotide position (np) 801 in humans and gorillas was independently introduced into each lineage after the specific divergence and an ancestral hominoid sequence of this site (np 799-802) was deduced as CCGG. The present data showing a mutational hot spot on this site suggest the possible presence of multiple origins of the worldwide distribution of the SDF1-3´A allele in humans.