دورية أكاديمية

Accounting for diverse evolutionary forces reveals mosaic patterns of selection on human preterm birth loci.

التفاصيل البيبلوغرافية
العنوان: Accounting for diverse evolutionary forces reveals mosaic patterns of selection on human preterm birth loci.
المؤلفون: LaBella, Abigail L., Abraham, Abin, Pichkar, Yakov, Fong, Sarah L., Zhang, Ge, Muglia, Louis J., Abbot, Patrick, Rokas, Antonis, Capra, John A.
المصدر: Nature Communications; 7/24/2020, Vol. 11 Issue 1, p1-12, 12p
مصطلحات موضوعية: PREMATURE labor, CHILDBIRTH, POPULATION differentiation, MOLECULAR evolution, LOCUS (Genetics), WORLD health
مستخلص: Currently, there is no comprehensive framework to evaluate the evolutionary forces acting on genomic regions associated with human complex traits and contextualize the relationship between evolution and molecular function. Here, we develop an approach to test for signatures of diverse evolutionary forces on trait-associated genomic regions. We apply our method to regions associated with spontaneous preterm birth (sPTB), a complex disorder of global health concern. We find that sPTB-associated regions harbor diverse evolutionary signatures including conservation, excess population differentiation, accelerated evolution, and balanced polymorphism. Furthermore, we integrate evolutionary context with molecular evidence to hypothesize how these regions contribute to sPTB risk. Finally, we observe enrichment in signatures of diverse evolutionary forces in sPTB-associated regions compared to genomic background. By quantifying multiple evolutionary forces acting on sPTB-associated regions, our approach improves understanding of both functional roles and the mosaic of evolutionary forces acting on loci. Our work provides a blueprint for investigating evolutionary pressures on complex traits. There is a need for analytical frameworks to investigate the evolution of complex genetic traits. Here, the authors develop an approach to simultaneously evaluate different evolutionary signatures on trait-associated genetic variants for complex traits and apply it to study spontaneous preterm birth. [ABSTRACT FROM AUTHOR]
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قاعدة البيانات: Complementary Index
الوصف
تدمد:20411723
DOI:10.1038/s41467-020-17258-6