Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin.
Sun-exposure is a key environmental variable in the study of human evolution. Several skin-pigmentation genes serve as classical examples of positive selection, suggesting that sun-exposure has significantly shaped worldwide genomic variation. Here we investigate the interaction between genetic vari...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2016-10-01
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| Series: | PLoS Genetics |
| Online Access: | http://europepmc.org/articles/PMC5070784?pdf=render |
| _version_ | 1819094111086444544 |
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| author | Ryosuke Kita Hunter B Fraser |
| author_facet | Ryosuke Kita Hunter B Fraser |
| author_sort | Ryosuke Kita |
| collection | DOAJ |
| description | Sun-exposure is a key environmental variable in the study of human evolution. Several skin-pigmentation genes serve as classical examples of positive selection, suggesting that sun-exposure has significantly shaped worldwide genomic variation. Here we investigate the interaction between genetic variation and sun-exposure, and how this impacts gene expression regulation. Using RNA-Seq data from 607 human skin samples, we identified thousands of transcripts that are differentially expressed between sun-exposed skin and non-sun-exposed skin. We then tested whether genetic variants may influence each individual's gene expression response to sun-exposure. Our analysis revealed 10 sun-exposure-dependent gene expression quantitative trait loci (se-eQTLs), including genes involved in skin pigmentation (SLC45A2) and epidermal differentiation (RASSF9). The allele frequencies of the RASSF9 se-eQTL across diverse populations correlate with the magnitude of solar radiation experienced by these populations, suggesting local adaptation to varying levels of sunlight. These results provide the first examples of sun-exposure-dependent regulatory variation and suggest that this variation has contributed to recent human adaptation. |
| first_indexed | 2024-12-21T23:22:12Z |
| format | Article |
| id | doaj.art-c83a09f1ffe34ecbb187849b58c53d55 |
| institution | Directory Open Access Journal |
| issn | 1553-7390 1553-7404 |
| language | English |
| last_indexed | 2024-12-21T23:22:12Z |
| publishDate | 2016-10-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj.art-c83a09f1ffe34ecbb187849b58c53d552022-12-21T18:46:46ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042016-10-011210e100638210.1371/journal.pgen.1006382Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin.Ryosuke KitaHunter B FraserSun-exposure is a key environmental variable in the study of human evolution. Several skin-pigmentation genes serve as classical examples of positive selection, suggesting that sun-exposure has significantly shaped worldwide genomic variation. Here we investigate the interaction between genetic variation and sun-exposure, and how this impacts gene expression regulation. Using RNA-Seq data from 607 human skin samples, we identified thousands of transcripts that are differentially expressed between sun-exposed skin and non-sun-exposed skin. We then tested whether genetic variants may influence each individual's gene expression response to sun-exposure. Our analysis revealed 10 sun-exposure-dependent gene expression quantitative trait loci (se-eQTLs), including genes involved in skin pigmentation (SLC45A2) and epidermal differentiation (RASSF9). The allele frequencies of the RASSF9 se-eQTL across diverse populations correlate with the magnitude of solar radiation experienced by these populations, suggesting local adaptation to varying levels of sunlight. These results provide the first examples of sun-exposure-dependent regulatory variation and suggest that this variation has contributed to recent human adaptation.http://europepmc.org/articles/PMC5070784?pdf=render |
| spellingShingle | Ryosuke Kita Hunter B Fraser Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin. PLoS Genetics |
| title | Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin. |
| title_full | Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin. |
| title_fullStr | Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin. |
| title_full_unstemmed | Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin. |
| title_short | Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin. |
| title_sort | local adaptation of sun exposure dependent gene expression regulation in human skin |
| url | http://europepmc.org/articles/PMC5070784?pdf=render |
| work_keys_str_mv | AT ryosukekita localadaptationofsunexposuredependentgeneexpressionregulationinhumanskin AT hunterbfraser localadaptationofsunexposuredependentgeneexpressionregulationinhumanskin |