Estimating Scandinavian and Gaelic Ancestry in the Male Settlers of Iceland Agnar Helgason, Sigrún Sigurðardóttir, Jayne Nicholson, Bryan Sykes, Emmeline.

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Estimating Scandinavian and Gaelic Ancestry in the Male Settlers of Iceland Agnar Helgason, Sigrún Sigurðardóttir, Jayne Nicholson, Bryan Sykes, Emmeline W. Hill, Daniel G. Bradley, Vidar Bosnes, Jeffery R. Gulcher, Ryk Ward, Kári Stefánsson The American Journal of Human Genetics Volume 67, Issue 3, Pages 697-717 (September 2000) DOI: 10.1086/303046 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Haplogroups are represented by circles and are identified by numbers, on the basis of the nomenclature of Tyler-Smith (1999) and Jobling et al. (1997). Lines denote mutation events, which are labeled with the associated diallelic marker. The American Journal of Human Genetics 2000 67, 697-717DOI: (10.1086/303046) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 The area of each pie denotes sample size, and the pie slices denote the proportion of chromosomes belonging to each haplogroup. Haplogroups were assigned using the diallelic markers 92R7, M9, SRY-1532, YAP, and TAT. Sources of data are as follows: for pies 1–4, the present study; for pie 5, Hill et al. (2000); for pie 6, T. Zerjal, L. Beckman, and C. Tyler-Smith (personal communication); for pies 7–10, Karafet et al. (1999); and for pie 11, Previdere et al. (1998). The American Journal of Human Genetics 2000 67, 697-717DOI: (10.1086/303046) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Median-joining network showing the phylogenetic relationships of Icelandic Y-chromosome haplotypes within haplogroup 1. Haplogroup membership was determined by the seven diallelic markers listed in the Material and Methods section. Haplotypes are defined by character states at eight microsatellite loci: DYS19, DYS388, DYS389I, DYS389b, and DYS390–DYS393. The allele sizes of the two DYS385 loci are shown below each haplotype. Circles denote haplotypes, and their sizes denote the frequencies of the haplotypes in the Icelanders. Lines denote mutational changes in the repeat numbers of microsatellite loci, with both the locus and the change in repeat number indicated. Reticulations denote the presence of recurrent mutations that could not be resolved with the available markers. Circles are shaded with respect to haplotype sharing with Scandinavians and Gaels, on the basis of a comparison of a restricted set of five microsatellites: DYS19 and DYS390–DYS393. Broken lines denote mutations at loci that are not included in the restricted set of microsatellites and therefore do not discriminate between haplotypes of Icelanders and those of Scandinavians and Gaels. Gray-shaded and blackened areas denote the relative frequencies of a haplotype in Gaels and Scandinavians, respectively. Unshaded and unblackened haplotypes are found only in Iceland. The American Journal of Human Genetics 2000 67, 697-717DOI: (10.1086/303046) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 4 Median-joining network showing the phylogenetic relationships of Icelandic Y-chromosome haplotypes within haplogroup 2. For definitions, see the legend for figure 3. The American Journal of Human Genetics 2000 67, 697-717DOI: (10.1086/303046) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 5 Median-joining network showing the phylogenetic relationships of Icelandic Y-chromosome haplotypes within haplogroup 3. For definitions, see the legend for figure 3. The American Journal of Human Genetics 2000 67, 697-717DOI: (10.1086/303046) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 6 The scatterplot presents the relationship between pI −pG and pS−pG, where pI, pG, and pS denote the haplotype frequencies for the Icelanders, Gaels, and Scandinavians, respectively. The slope of the least-squares fitted regression line approximates the mR estimate of Scandinavian ancestry in Icelandic Y chromosomes. The American Journal of Human Genetics 2000 67, 697-717DOI: (10.1086/303046) Copyright © 2000 The American Society of Human Genetics Terms and Conditions