Nature Genetics
37, 129 - 137 (2005)
Published online: 16 January 2005; | doi:10.1038/ng1508
A common inversion under selection in EuropeansHreinn Stefansson, Agnar Helgason, Gudmar Thorleifsson, Valgerdur Steinthorsdottir, Gisli Masson, John Barnard, Adam Baker, Aslaug Jonasdottir, Andres Ingason, Vala G Gudnadottir, Natasa Desnica, Andrew Hicks, Arnaldur Gylfason, Daniel F Gudbjartsson, Gudrun M Jonsdottir, Jesus Sainz, Kari Agnarsson, Birgitta Birgisdottir, Shyamali Ghosh, Adalheidur Olafsdottir, Jean-Baptiste Cazier, Kristleifur Kristjansson, Michael L Frigge, Thorgeir E Thorgeirsson, Jeffrey R Gulcher, Augustine Kong
& Kari StefanssonSupplementary Fig. 1 (pdf 432K) Genotype analysis on homozygous samples sharing (identical-by-descent) over the 17q21.31 locus. Supplementary Fig. 2 (pdf 56K) The relative copy number for H1D1 and H1D3 variants compared to H2 variants estimated by gene dose analysis at three loci. Supplementary Fig. 3 (pdf 172K) Five chromosomal variants with considerable variation in size at the inverted locus on 17q21.31. Supplementary Fig. 4 (pdf 68K) Positive correlation is found between copy numbers of the 5' end of the NSF gene per sample. Supplementary Fig. 5 (pdf 96K) A sliding window analysis of sequence divergence in 5 kb sequence segments inside the inverted region of a 77 kb fragment that spans much of intron 1 and 2 from the MAPT gene from 44.444005-44.520949 Mb in the H1 orientation in Build 34. Supplementary Fig. 6 (pdf 132K) LD between SNP markers spanning the inversion at 17q21.31. Supplementary Fig. 7 (pdf 216K) The estimate frequency of H2 for females and males who have 0, 1, 2, 3, 4 and 5 or more children. Supplementary Table 1 (pdf 44K) Available sequences and contigs from the RP11 library mapping to 17q21.31. Supplementary Table 2 (pdf 52K) Test for the impact of selection of H2 chromosomes in the Utah sample using the mutational diversity of five microsatellites. Supplementary Table 3 (pdf 48K) The distribution of the number of children for 82,992 Icelandic males and for 79,811 Icelandic females born between 1925 and 1965. Supplementary Table 4 (pdf 40K) Results from multiple regression analyses for a cohort of 16959 females and 12178 males born between 1925 and 1965. Supplementary Table 5 (pdf 52K) Primer sequences for markers shown in Figures 1 and 3. Supplementary Table 6 (pdf 32K) Difference in mutation rate for microsatellites on H1 and H2 backgrounds.
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