CAREER: Examining the genetic architecture and evolutionary history of skin pigmentation

这个CAREER项目通过收集和分析基因组、表型和人种学数据来研究皮肤色素沉着的遗传结构和进化。随着从未充分研究的人群中获取大规模数据的机会越来越多，以及计算方法的相应发展，有机会以以前无法获得的方式探索关于皮肤色素沉着和其他人类特征的新的和长期存在的假设。该项目促进了对人类生物进化、变异和适应的了解。PI的教育计划将科学活动与指导研究经验紧密结合，旨在提高少数民族本科生的定量、科学素养和科学交流技能。为了扩大这个项目的影响，收集的基因组和表型数据的目标部分也被纳入PI的本科和研究生水平课程的实验室部分，目的是通过实践经验增加内容知识。此外，该项目还促进人类学遗传学、进化和生物信息学方面的国际研究合作，搭建桥梁，促进跨文化参与研究和开发研究能力。利用先前在分子人类学研究中代表性不足的人群的数据，PI评估了新等位基因对皮肤色素沉着和相关特征的epistatic和多效性影响；推断形成显著相关位点的频率和分布的微观进化力量；并研究了具有相似遗传背景的空间分离人群之间的表型差异。本研究采用比较统计和实证方法，探讨了是少数高频适应性等位基因决定表型（经典选择模型），还是在许多位点上发生的小到中等效应的选择事件导致性状变异（多基因适应模型），为人类生物进化提供了新的见解。该项目不仅推进了生物人类学的知识，还可以为法医和皮肤科学等学科的研究提供信息，并有可能导致从长凳到生物医学领域的创新发现。本项目由建设与拓展2.0项目和生物人类学项目共同资助。该奖项反映了美国国家科学基金会的法定使命，并通过使用基金会的知识价值和更广泛的影响审查标准进行评估，被认为值得支持。

This CAREER project examines the genetic architecture and evolution of skin pigmentation through collection and analysis of genomic, phenotypic and ethnographic data. With increasing access to large-scale data from understudied populations and corresponding developments in computational methods, there is the opportunity to explore new and long-standing hypotheses about skin pigmentation and other human traits in ways that were previously inaccessible. The project advances knowledge about human biological evolution, variation, and adaptation. The PI’s educational plan tightly integrates scientific activities with a mentored research experience aimed at enhancing quantitative, scientific literacy and science communication skills in minority undergraduate students. To broaden the impact of this project, a targeted portion of the collected genomic and phenotypic data also is incorporated into the laboratory sections of the PI’s undergraduate and graduate-level courses with the goal of increasing content knowledge through hands-on experience. In addition, the project contributes to international research collaborations in anthropological genetics, evolution, and bioinformatics, building bridges that improve cross-cultural participation in research and development of research capacity.With data from human populations that have previously been underrepresented in molecular anthropological research, the PI assesses the epistatic and pleiotropic effects of novel alleles on skin pigmentation and related traits; infers the microevolutionary forces that have shaped the frequency and distribution of significantly associated loci; and investigates phenotypic differences between spatially separated populations with similar genetic backgrounds. Using comparative statistical and empirical methods, this study addresses whether a few adaptive alleles at high frequency underlie phenotypes (classical selection model), or whether selective events occurring at many loci with small to moderate effect sizes contribute to trait variation (polygenic adaptation model), providing new insights into human biological evolution. This project not only advances knowledge in biological anthropology but can also inform research in disciplines such as forensic and dermatological sciences and potentially lead to innovative discoveries translatable from the bench to the biomedical domain. This project is jointly funded by the Build and Broaden 2.0 and Biological Anthropology programs.This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.