Weakened tanning ability is an important mechanism for evolutionary skin lightening in East Asians
Copyright © 2024. Published by Elsevier Ltd..
The evolution of light skin pigmentation among Eurasians is considered an adaptation to the high-latitude environments. East Asians are ideal populations for studying skin color evolution because of the complex environment of East Asia. Here, we report a strong selection signal for the pigmentation gene PAH in light-skinned Han Chinese individuals. The intron mutation rs10778203 in PAH was enriched in East Asians and significantly associated with skin color of the back of the hand in Han Chinese males (P <0.05). In vitro luciferase and transcription factor binding assays showed that the ancestral allele of rs10778203 could bind to SMAD2 and has significant enhancer activity for PAH. However, the derived T allele (the major allele in East Asians) of rs10778203 decreases the binding activity of transcription factors and enhancer activity. Meanwhile, the derived T allele of rs10778203 showed a weaker ultraviolet radiation response in A375 cells and zebrafish embryos. Furthermore, rs10778203 decreases melanin production in transgenic zebrafish embryos after UVB treatment. Collectively, PAH is a potential pigmentation gene that regulates skin tanning ability. Natural selection has enriched the adaptive allele, resulting in weakened tanning ability in East Asians, suggesting a unique genetic mechanism for evolutionary skin lightening in East Asians.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - year:2024 |
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| Enthalten in: |
Journal of genetics and genomics = Yi chuan xue bao - (2024) vom: 08. März |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Pu, Youwei [VerfasserIn] |
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| Links: |
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| Themen: |
East Asians |
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| Anmerkungen: |
Date Revised 10.03.2024 published: Print-Electronic Citation Status Publisher |
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| doi: |
10.1016/j.jgg.2024.03.001 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a The evolution of light skin pigmentation among Eurasians is considered an adaptation to the high-latitude environments. East Asians are ideal populations for studying skin color evolution because of the complex environment of East Asia. Here, we report a strong selection signal for the pigmentation gene PAH in light-skinned Han Chinese individuals. The intron mutation rs10778203 in PAH was enriched in East Asians and significantly associated with skin color of the back of the hand in Han Chinese males (P <0.05). In vitro luciferase and transcription factor binding assays showed that the ancestral allele of rs10778203 could bind to SMAD2 and has significant enhancer activity for PAH. However, the derived T allele (the major allele in East Asians) of rs10778203 decreases the binding activity of transcription factors and enhancer activity. Meanwhile, the derived T allele of rs10778203 showed a weaker ultraviolet radiation response in A375 cells and zebrafish embryos. Furthermore, rs10778203 decreases melanin production in transgenic zebrafish embryos after UVB treatment. Collectively, PAH is a potential pigmentation gene that regulates skin tanning ability. Natural selection has enriched the adaptive allele, resulting in weakened tanning ability in East Asians, suggesting a unique genetic mechanism for evolutionary skin lightening in East Asians | ||
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a natural selection | |
| 650 | 4 | |a skin pigmentation | |
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| 700 | 1 | |a Chen, Yanyan |e verfasserin |4 aut | |
| 700 | 1 | |a Kong, Qinghong |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Xuyang |e verfasserin |4 aut | |
| 700 | 1 | |a Zhao, Qi |e verfasserin |4 aut | |
| 700 | 1 | |a Xu, Ke |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Jiuming |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Mengyuan |e verfasserin |4 aut | |
| 700 | 1 | |a Xu, Xiaoyu |e verfasserin |4 aut | |
| 700 | 1 | |a Qiao, Xiaoyang |e verfasserin |4 aut | |
| 700 | 1 | |a Su, Bing |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Jing |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Zhaohui |e verfasserin |4 aut | |
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