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Our genetic diversity and evolutionary analyses of NR2E1 in ethnically diverse humans and non-human primates will inform future NR2E1 studies of human brain behavior disorders.
Nine human-specific Alu-RMIs were genotyped in 80 diverse humans (20 individuals from each of four populations, composed of African-American, European, Asian, and South American individuals) and seven chimpanzee-specific Alu-RMIs were genotyped in 12 unrelated common chimpanzees.
The knowledge of the genetic architecture of NR2E1 generated in this study in ethnically diverse humans and non-human primates provides additional tools for future disease-mapping studies of brain behavior disorders.
For example, among a group of geographically diverse humans, we reported earlier that the length of the repeat domain averaged ~700 amino acids with 95% of haplotypes among 188 chromosomes studied differing by less than 71 amino acids [ 8].
Humans, having recently (in evolutionary terms) gone through a population bottleneck, are a genetically restricted species but we have recently shown that the 3' 1 kb portion of DPP's repeat domain in 188 chromosomes selected from geographically diverse humans had 37 different haplotypes due to various combinations of 37 SNPs and 20 insertions/deletions (indels) [ 8].
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