Figure 2.

Diagrams representing luciferase constructs used for the investigation and comparative genomic analysis to identify BE5.2 and allelic frequency of rs12273363 in different human populations. (A) Diagrammatic representation of the different luciferase constructs used to investigate the effects of different alleles of BE5.2 and on human brain derived neurotrophic factor promoter 4 (BP4) activity (not to scale). (B) Stacked pairwise alignment from the evolutionary conserved region genome browser between genomic sequences of different animal species (in descending order; chicken, possum, mouse, dog, and rhesus macaque) against the human genomic sequence. Brain derived neurotrophic factor promoter 4 and BE5.2 are indicated by a black box and the direction of transcription from BP4 is indicated by a bent black arrow. The single nucleotide polymorphism rs12273363 is found in BE5.2. Yellow, pink, green, blue, and red peaks highlight areas of conservation in untranslated regions, introns, repetitive regions, coding regions, and intergenic DNA, respectively (from evolutionary conserved region genome browser). The position of rs12273363 is indicated below BE5.2. (C) Allelic frequency of rs12273363 in different human populations from the National Center for Biotechnology Information single nucleotide polymorphism database. BDNF, brain derived neurotrophic factor; CEU, Central Europeans; Chrom., chromosome; Cnt., count; HCB, Hans Chinese in Bejing; JPT, Japanese in Tokyo; YRI, Yoruba in Ibadan.