Fig. 3.

A segmental duplication in the human PM20D1 locus. (A) The upstream and intronic regions of PPARγ binding (red) were highly similar to each other, and fall in a larger ∼1.8-kb duplicated region (black arrows) encompassing exon 2 of PM20D1 (blue). The 97% identical duplicated DNA is ∼5 kb away and in reverse orientation. (B) Available mammalian genomes were interrogated on the UCSC genome browser, and the duplicated upstream DNA was limited to Old World monkeys and great apes. (C) Schematic zoom-in on the central 250-bp PPARγ binding region. There are 7 variable nucleotide positions in intron 2, with 2 (stars) falling in PPREs. Based on sequencing of PCR products, 3 differences distinguish the upstream and intronic paralogs (yellow), while 4 differences are true polymorphisms (green).