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Chunk #22 — Results — IDENTIFICATION OF VARIANTS AT THE rhCRH LOCUS

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CRH haplotype as a factor influencing cerebrospinal fluid levels of corticotropin-releasing hormone, hypothalamic-pituitary-adrenal axis activity, temperament, and alcohol consumption in rhesus macaques.
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We screened the rhesus macaque CRH gene and 3′ and 5′ flanking regions and identified 40 polymorphic sites (Figure 1A). Variants were assigned positions relative to the rhCRH transcription start site, which was predicted at 68804514 of chromosome 8 (January 2006 assembly-rheMac2, http://genome.ucsc.edu/). The five most common haplotypes are shown in Figure 1B. rhCRH-H1 carried the common allele at almost every site. The second most common (rhCRH-H2) is composed of the minor alleles for a 21-marker haplotype that extends across the 5740-bp region (Figures 1 and 2). Genotyping across populations (NIHAC, University of Wisconsin, Morgan Island) demonstrated this haplotype to be present at similar frequencies (minor allele frequency = 8%, data not shown), and focused re-sequencing showed they were in perfect linkage disequilibrium (LD, D′) (Figure 1B).