Structure and Evolution of the <i>ASPM</i> Gene in Primates

<div><p>The scale of all plots corresponds to the consensus sequence obtained based on a multiple alignment of five <i>ASPM</i> genes.</p> <p>(A) Schematic representation of the alignment. Promoter regions, exons, and introns are marked in gray, red, and blue, respectively. White segments correspond to gaps.</p> <p>(B) Positions of long (50 bp or longer) insertions/deletions. “O” denotes orangutan, “M” macaque, “OGCH” the orangutan–gorilla–chimpanzee–human clade, and “GCH” the gorilla–chimpanzee–human clade.</p> <p>(C) Positions of polymorphic bases derived from the GenBank single nucleotide polymorphism (SNP) database.</p> <p>(D) Positions of the CpG island. The approximately 800-bp-long CpG island includes promoter, 5′ UTR, first exon, and a small portion of the first intron.</p> <p>(E) Location of an approximately 3-kb-long segmental duplication.</p> <p>(F) Positions of selected motifs associated with genomic rearrangements in the human sequence. Numbers in parentheses reflect number of allowed differences from the consensus motif (zero for short or two ambiguous motifs, two for longer sites).</p> <p>(G) Distribution of repetitive elements. The individual <i>ASPM</i> genes share the same repeats except of indels marked in (B).</p> <p>(H) DNA identity and GC content. Both plots were made using a 1-kb-long sliding window with 100-bp overlaps. The GC profile corresponds to the consensus sequence; the individual sequences have nearly identical profiles.</p>