Title |
Exploring signatures of positive selection in pigmentation candidate genes in populations of East Asian ancestry
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Published in |
BMC Ecology and Evolution, July 2013
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DOI | 10.1186/1471-2148-13-150 |
Pubmed ID | |
Authors |
Jessica L Hider, Rachel M Gittelman, Tapan Shah, Melissa Edwards, Arnold Rosenbloom, Joshua M Akey, Esteban J Parra |
Abstract |
Currently, there is very limited knowledge about the genes involved in normal pigmentation variation in East Asian populations. We carried out a genome-wide scan of signatures of positive selection using the 1000 Genomes Phase I dataset, in order to identify pigmentation genes showing putative signatures of selective sweeps in East Asia. We applied a broad range of methods to detect signatures of selection including: 1) Tests designed to identify deviations of the Site Frequency Spectrum (SFS) from neutral expectations (Tajima's D, Fay and Wu's H and Fu and Li's D* and F*), 2) Tests focused on the identification of high-frequency haplotypes with extended linkage disequilibrium (iHS and Rsb) and 3) Tests based on genetic differentiation between populations (LSBL). Based on the results obtained from a genome wide analysis of 25 kb windows, we constructed an empirical distribution for each statistic across all windows, and identified pigmentation genes that are outliers in the distribution. |
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Geographical breakdown
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Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United Kingdom | 2 | 2% |
United States | 2 | 2% |
Canada | 1 | <1% |
Unknown | 109 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 21 | 18% |
Student > Ph. D. Student | 17 | 15% |
Student > Bachelor | 15 | 13% |
Student > Master | 11 | 10% |
Professor > Associate Professor | 9 | 8% |
Other | 19 | 17% |
Unknown | 22 | 19% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 51 | 45% |
Biochemistry, Genetics and Molecular Biology | 19 | 17% |
Medicine and Dentistry | 4 | 4% |
Social Sciences | 3 | 3% |
Psychology | 3 | 3% |
Other | 9 | 8% |
Unknown | 25 | 22% |