A study on „golden gene“ adds an important piece to the jigsaw puzzle of human skin color variation | University of Tartu
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Contacts of UT units

Faculty of Arts and Humanities
Faculty phone: 
(+372) 737 5341
Faculty address: 
Jakobi 2 - 116-121, 51014, Tartu
  • Dean's Office
    Faculty phone: 
    + 372 737 5341
    Faculty address: 
    Jakobi 2, rooms 116 - 121, 51014, Tartu
  • Institute of History and Archaeology
    Faculty phone: 
    (+372) 737 5651
    Faculty address: 
    Jakobi 2, 51003, Tartu
  • Institute of Estonian and General Linguistics
    Faculty phone: 
    (+372) 737 5221
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    Jakobi 2, 51014, Tartu
  • Institute of Philosophy and Semiotics
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    Faculty address: 
    Jakobi 2, III, rooms 309-352, 51014, Tartu
  • Institute of Cultural Research
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    Faculty address: 
    Ülikooli 16, 51003, Tartu
  • School of Theology and Religious Studies
    Faculty phone: 
    (+372) 737 5301
    Faculty address: 
    Ülikooli 18-310, 50090, Tartu
  • College of Foreign Languages and Cultures
    Faculty address: 
    Lossi 3, 51003, Tartu
  • Viljandi Culture Academy
    Faculty phone: 
    (+372) 435 5232
    Faculty address: 
    Posti 1, 71004, Viljandi
Faculty of Social Sciences
Faculty phone: 
(+372) 737 5957
Faculty address: 
Lossi 36, 51003, Tartu
  • Dean's Office
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    + 372 737 5900
    Faculty address: 
    Lossi 36, 51003, Tartu
  • Institute of Education
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  • Johan Skytte Institute of Political Studies
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    Lossi 36, roomm 301, 51003, Tartu
  • School of Economics and Business Administration
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  • Institute of Sport Sciences and Physiotherapy
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Faculty of Science and Technology
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Vanemuise 46-208, 51014, Tartu
  • Dean's Office
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    Vanemuise 46 - 208, 51014, Tartu
  • Institute of Computer Science
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  • Estonian Marine Institute
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  • Institute of Physics
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  • Institute of Chemistry
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  • Institute of Mathematics and Statistics
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  • Institute of Molecular and Cell Biology
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  • Youth Academy
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    Lossi 38, 51003, Tartu
  • Estonian Genome Center
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    Riia 23b, 51010, Tartu
  • Museum
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  • University of Tartu Natural History Museum and Botanical Garden
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Support Units
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  • University Office in Tallinn
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  • Estates Office
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  • Finance Office
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  • Information Technology Office
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  • Marketing and Communication Office
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  • Office of Academic Affairs
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  • Office of Research and Development
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A study on „golden gene“ adds an important piece to the jigsaw puzzle of human skin color variation

Though genetics of skin pigmentation has shown recent advancements in the last decade, studies involving populations of South Asia, one of the  major hot spots of pigmentation diversity is still in its infancy stage. South Asia, inhabited by one-fifth of the world population and known for it’s complex prehistory, thus serves as a perfect model to decipher the underlying genetic architecture of skin pigmentation.

An international team of scientists led by researchers from University of Tartu, Estonian Biocentre and University of Cambridge, in a current study published in PLOS Genetics have filled this white spot by studying one of the important pigmentation genes, SLC24A5 which has been earlier known to contribute 25-38% of skin pigmentation differences between Europeans and West Africans.

In this study, the team carried out an expedition involving skin color measurements from local residents of India to quantify the range and extent of variation in skin pigmentation phenotype and found that this gene has a major effect on skin pigmentation. The first detailed map of the genetic variant inolving 54 ethnic populations shows that the light skin associated allele is quite wide spread. 

 “It was interesting to see that the effect of geographical, linguistic, socio-cultural boundaries further shaped by strict endogamy which forms the backbone of the South Asian genetic diversity was so strongly reflected in the complex patterning of this light skin allele” explains Chandana Basu Mallick, lead author, PhD student from University of Tartu and researcher at Estonian Biocentre. She further adds, “This study helps us to understand various other mechanisms that could have contributed in shaping the existing biological spectrum of human skin color in addition to the natural selection driven by UV rays, which is well-known and helps in further understanding of this complex phenotypic trait”.

Another important element of the study was resequencing of SLC24A5 using a representative global sample set which helped to unveil an important fact that Indians share the same mutation of SLC24A5 for their light skin as Europeans and belong to the same haplotype background. Though evidence of positive selection in SLC24A5 has been well demonstrated in previous genome-wide studies, the fact that South Asians have been underrepresented in the world-wide panels brought forward another important question; if there has been any evidence of positive selection for this gene in South Asians. To our surprise, we found that a differential pattern of selection with evidence of positive selection seen in North India, but not in South India.  This further suggested that an interesting interplay between selection and demographic history of populations.

This study also provides the first comprehensive estimate of the coalescence time of rs1426654-A allele, which is crucial in the understanding of the evolutionary history of light skin in humans which is still a debated issue.

See the article at PLOS Genetics.

More information: Chandana Basu Mallick, phone: (+372) 53285250, e-mail: cbm2577 [ät] gmail.com;

Virge Tamme
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E-mail: virge.tamme [ät] ut.ee
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