The deleterious mutation load is insensitive to recent population history

• DOI: 10.48550/arxiv.1305.2061
• Publication Date: 2013-01-01
• Authors: Yuval B. Simons; Michael C. Turchin; Jonathan K. Pritc...; Guy Sella
• Keywords: Population bottleneck; Demographic history; Genetic load

Human populations have undergone dramatic changes in population size the past 100,000 years, including a severe bottleneck of non-African and recent explosive growth. There is currently great interest how these demographic events may affected burden deleterious mutations individuals allele frequency spectrum disease populations. Here we use genetic models to show that--contrary previous conjectures--recent human demography has likely had very little impact on average carried by individuals. This prediction supported exome sequence data showing that African American European carry similar burdens damaging mutations. We next consider whether growth increased importance rare complex traits. Our analysis predicts for most classes variants, alleles are unlikely contribute large fraction total variance, be modest. However, diseases direct fitness, strongly do play important roles, will far greater as result In summary, history dramatically impacted patterns variation different populations, but either load or variants