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A genome-wide genetic screen uncovers novel determinants of human pigmentation

View ORCID ProfileVivek K. Bajpai, Tomek Swigut, Jaaved Mohammed, Josh Tycko, Sahin Naqvi, Martin Arreola, Tayne C. Kim, Neha Arora, Jonathan K. Pritchard, Michael C. Bassik, Joanna Wysocka
doi: https://doi.org/10.1101/2021.09.29.462413
Vivek K. Bajpai
1Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
2Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
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  • ORCID record for Vivek K. Bajpai
Tomek Swigut
1Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
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Jaaved Mohammed
1Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
2Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
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Josh Tycko
3Department of Genetics, Stanford University, Stanford, CA 94305, USA
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Sahin Naqvi
1Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
2Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
3Department of Genetics, Stanford University, Stanford, CA 94305, USA
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Martin Arreola
2Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
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Tayne C. Kim
1Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
2Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
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Neha Arora
1Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
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Jonathan K. Pritchard
3Department of Genetics, Stanford University, Stanford, CA 94305, USA
4Department of Biology, Stanford University, Stanford, CA 94305, USA
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Michael C. Bassik
3Department of Genetics, Stanford University, Stanford, CA 94305, USA
5Chemistry, Engineering, and Medicine for Human Health (ChEM-H), Stanford University, Stanford, CA 94305, USA
6Program in Cancer Biology, Stanford University School of Medicine, Stanford, CA 94305 USA
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Joanna Wysocka
1Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
2Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
7Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
8Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA 94305, USA
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  • For correspondence: wysocka@stanford.edu
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Abstract

The skin color is one of the most diverse human traits and is determined by the quantity, type and distribution of melanin. Here, we leverage light scattering properties of melanin to conduct a genome-wide CRISPR-Cas9 screen for novel regulators of melanogenesis. We identify functionally diverse genes converging on melanosome biogenesis, endosomal transport and transcriptional/posttranscriptional gene regulation, most of which represent novel associations with pigmentation. A survey of transcriptomes from diversely pigmented individuals reveals that the majority of genes discovered in our screen are upregulated in dark skin melanocytes, in agreement with their melanin-promoting function and potential contribution to skin color variation. This association is further buttressed by the significant skin color heritability enrichment in the vicinity of these genes. Taken together, our study presents a novel approach to assay pigmentation and uncovers a plethora of melanogenesis regulators, with broad implications for human variation, cell biology and medicine.

One Sentence Summary Genetic screen uncovers genes involved in human melanogenesis, many of which are differentially expressed in individuals of diverse skin color.

Competing Interest Statement

The authors have declared no competing interest.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Posted October 01, 2021.
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A genome-wide genetic screen uncovers novel determinants of human pigmentation
Vivek K. Bajpai, Tomek Swigut, Jaaved Mohammed, Josh Tycko, Sahin Naqvi, Martin Arreola, Tayne C. Kim, Neha Arora, Jonathan K. Pritchard, Michael C. Bassik, Joanna Wysocka
bioRxiv 2021.09.29.462413; doi: https://doi.org/10.1101/2021.09.29.462413
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A genome-wide genetic screen uncovers novel determinants of human pigmentation
Vivek K. Bajpai, Tomek Swigut, Jaaved Mohammed, Josh Tycko, Sahin Naqvi, Martin Arreola, Tayne C. Kim, Neha Arora, Jonathan K. Pritchard, Michael C. Bassik, Joanna Wysocka
bioRxiv 2021.09.29.462413; doi: https://doi.org/10.1101/2021.09.29.462413

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