Natural Selection and Population History in the Human Angiotensinogen Gene (AGT): 736 Complete AGT Sequences in Chromosomes from Around the World Toshiaki.

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Presentation transcript:

Natural Selection and Population History in the Human Angiotensinogen Gene (AGT): 736 Complete AGT Sequences in Chromosomes from Around the World Toshiaki Nakajima, Stephen Wooding, Takuro Sakagami, Mitsuru Emi, Katsushi Tokunaga, Gen Tamiya, Tomoaki Ishigami, Satoshi Umemura, Batmunkh Munkhbat, Feng Jin, Jia Guan-jun, Ikuo Hayasaka, Takafumi Ishida, Naruya Saitou, Karel Pavelka, Jean-Marc Lalouel, Lynn B. Jorde, Ituro Inoue The American Journal of Human Genetics Volume 74, Issue 5, Pages 898-916 (May 2004) DOI: 10.1086/420793 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Distribution of sequence variations on three continents: Africa, Eurasia, and East Asia The American Journal of Human Genetics 2004 74, 898-916DOI: (10.1086/420793) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 A, Summary of sequence variation in AGT. Variable sites are color coded. Homozygotes for the derived allele are red, heterozygotes are purple, and homozygotes for the ancestral allele are blue. The ancestral allele at each locus was estimated on the basis of primate (Pan troglodytes verus, Gorilla gorilla, and Pongo pygmaeus) sequences. B, Sequence variation in AGT genotypes homozygous for G(−6), heterozygous, and homozygous for A(−6). SNPs in tight LD with A(−6)G (r2>0.5) are indicated by arrows and arrow heads. The American Journal of Human Genetics 2004 74, 898-916DOI: (10.1086/420793) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 3 Neighbor-joining tree based on Nei’s distance among seven populations. The shaded portion of each circle indicates the frequency of the A(−6)/T235 allele. The American Journal of Human Genetics 2004 74, 898-916DOI: (10.1086/420793) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 4 A, Structure of LD in three African populations (Pygmy, Nande, and Hema) and three non-African populations (Utah, Indian/Pakistani, and Korean). Each point represents a disequilibrium coefficient, |D′| and r2, calculated pairwise among 50 SNPs. Pairs in LD (D′⩾0.75, r2⩾0.5) are shaded. Arrowheads indicate SNPs that were not observed in each population sample. B, Pairwise r2 values in 15 population samples were plotted as a function of physical distance. The American Journal of Human Genetics 2004 74, 898-916DOI: (10.1086/420793) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 5 Sliding-window test of neutrality in AGT. Each window contains 20 SNPs, with a step size of 1 SNP. Arrows indicate SNPs in tight LD with T235M. The American Journal of Human Genetics 2004 74, 898-916DOI: (10.1086/420793) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 6 Sliding-window plots of θπ and θH in African samples (A) and Utah samples (B). Each window contains 20 SNPs, with a step size of 1 SNP. The sites of SNPs in tight LD with A(−6)G (r2>0.5) are indicated by arrows. The American Journal of Human Genetics 2004 74, 898-916DOI: (10.1086/420793) Copyright © 2004 The American Society of Human Genetics Terms and Conditions