Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa.

African populations are the most diverse in the world yet are sorely underrepresented in medical genetics research. Here, we examine the structure of African populations using genetic and comprehensive multi-generational ethnolinguistic data from the Neuropsychiatric Genetics of African Populations-Psychosis study (NeuroGAP-Psychosis) consisting of 900 individuals from Ethiopia, Kenya, South Africa, and Uganda. We find that self-reported language classifications meaningfully tag underlying genetic variation that would be missed with consideration of geography alone, highlighting the importance of culture in shaping genetic diversity. Leveraging our uniquely rich multi-generational ethnolinguistic metadata, we track language transmission through the pedigree, observing the disappearance of several languages in our cohort as well as notable shifts in frequency over three generations. We find suggestive evidence for the rate of language transmission in matrilineal groups having been higher than that for patrilineal ones. We highlight both the diversity of variation within Africa as well as how within-Africa variation can be informative for broader variant interpretation; many variants that are rare elsewhere are common in parts of Africa. The work presented here improves the understanding of the spectrum of genetic variation in African populations and highlights the enormous and complex genetic and ethnolinguistic diversity across Africa.

Fine-scale cultural variation reinforces genetic structure in England.

OBJECTIVES: Genes and languages both contain signatures of human evolution, population movement, and demographic history. Cultural traits like language are transmitted by interactions between people, and these traits influence how people interact. In particular, if groups of people differentiate each other based on some qualities of their cultures, and if these qualities are passed to the next generation, then this differentiation can result in barriers to gene flow. Previous work finds such barriers to gene flow between groups that speak different languages, and we explore this phenomenon further: can more subtle cultural differences also produce genetic structure in a population? We focus on whether subtle, dialect-level linguistic differences in England have influenced genetic population structure, likely by affecting mating preferences. MATERIALS AND METHODS: We analyze spatially dense linguistic and genetic data-both of which independently contain spatially structured variation in England-to examine whether the cultural differences represented by variation in English phonology colocalize with higher genetic rates of change. RESULTS: We find that genetic variation and dialect markers have similar spatial distributions on a country-wide scale, and that throughout England, linguistic boundaries colocalize with the boundaries of genetic clusters found using fineSTRUCTURE. DISCUSSION: This gene-language covariation, in the absence of geographic barriers that could coordinate cultural and genetic differentiation, suggests that similar social forces influenced both dialect boundaries and the genetic population structure of England.

The Role of the Learner in the Cultural Evolution of Vocalizations.

As a uniquely human behavior, language is crucial to our understanding of ourselves and of the world around us. Despite centuries of research into how languages have historically developed and how people learn them, fully understanding the origin and evolution of language remains an ongoing challenge. In parallel, researchers have studied the divergence of birdsong in vocal-learning songbirds to uncover broader patterns of cultural evolution. One approach to studying cultural change over time, adapted from biology, focuses on the transmission of socially learned traits, including language, in a population. By studying how learning and the distribution of cultural traits interact at the population level, we can better understand the processes that underlie cultural evolution. Here, we take a two-fold approach to understanding the cultural evolution of vocalizations, with a focus on the role of the learner in cultural transmission. First, we explore previous research on the evolution of social learning, focusing on recent progress regarding the origin and ongoing cultural evolution of both language and birdsong. We then use a spatially explicit population model to investigate the coevolution of culture and learning preferences, with the assumption that selection acts directly on cultural phenotypes and indirectly on learning preferences. Our results suggest that the spatial distribution of learned behaviors can cause unexpected evolutionary patterns of learning. We find that, intuitively, selection for rare cultural phenotypes can indirectly favor a novelty-biased learning strategy. In contrast, selection for common cultural phenotypes leads to cultural homogeneity; we find that there is no selective pressure on learning strategy without cultural variation. Thus, counterintuitively, selection for common cultural traits does not consistently favor conformity bias, and novelty bias can stably persist in this cultural context. We propose that the evolutionary dynamics of learning preferences and cultural biases can depend on the existing variation of learned behaviors, and that this interaction could be important to understanding the origin and evolution of cultural systems such as language and birdsong. Selection acting on learned behaviors may indirectly impose counterintuitive selective pressures on learning strategies, and understanding the cultural landscape is crucial to understanding how patterns of learning might change over time.

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

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.