By T. Bonnesen
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Their data analysis revealed that 80% (55 megabases) of the segmental duplications present in humans arose after divergence of the Old World monkey and hominid lineages. Hominid lineages include chimpanzee, bonobo, and human. Marques-Bonet et al. reported that humans and chimpanzees share many specific duplications and that they have a significantly greater number of duplications than macaque or orangutan. They classified 10 megabases of duplication sequence as human-specific; 17 complete genes and 39 partial genes were 38 Phenotypic Variation present in the duplications.
2005) reported evidence for positive selection in the vicinity of the prodynorphin gene that altered expression of this gene. The selected variation increased transcription of this locus. Prodynorphin is a precursor molecule for endogenous opioids and neuropeptides that play roles in behavior and memory. These investigators proposed that during human evolution multiple noncoding mutations arose upstream of the prodynorphin transcription start site, and that some of these mutations altered cis-regulation of this gene.
Availability of genome sequence information and microarray analyses have more recently provided information on microheterogeneity, and have revealed that additional smaller inversions and copy number changes, including duplications and deletions, distinguish human and chimpanzee genomes. Kehrer-Sawatzki and Cooper (2007) reported that structural divergence is particularly marked in the subtelomeric regions. Telomeric caps generated by expansion of segmental duplications are particularly common in chimpanzees and gorillas.