Patterns of deleterious variation between human populations reveal an unbalanced load

摘要: Each human individual carries ∼30–60 de novo mutations that arose in the germ line of his or her parents (1). At population level, result is a massive influx new every generation, whose evolutionary trajectory shaped by joint effects stochastic and deterministic forces. Indeed, considerable information about history, including changes size, structure, timings major diasporas, embedded extant patterns neutral genetic variation (2). For example, data from global populations show striking gradient declining diversity with distance Africa, which has been attributed to serial founder associated Out-of-Africa migration subsequent expansion (3–5). However, contrast variation, considerably less known geographic deleterious fate governed both random drift purifying selection. In PNAS, Henn et al. (6) address this question performing whole-genome sequencing 54 individuals seven geographically diverse populations. The authors differences demographic history among have influenced manner predicted model during range expansions (Fig. 1). addition revealing insights into interaction between selection demography recent evolution, study quantifies within- between-population mutational burden, implications for predicting disease risk.