Abstract

Comparisons of DNA sequences between Neandertals and present-day humans have shown that Neandertals share more genetic variants with non-Africans than with Africans. This could be due to interbreeding between Neandertals and modern humans when the two groups met subsequent to the emergence of modern humans outside Africa. However, it could also be due to population structure that antedates the origin of Neandertal ancestors in Africa. We measure the extent of linkage disequilibrium (LD) in the genomes of present-day Europeans and find that the last gene flow from Neandertals (or their relatives) into Europeans likely occurred 37,000–86,000 years before the present (BP), and most likely 47,000–65,000 years ago. This supports the recent interbreeding hypothesis and suggests that interbreeding may have occurred when modern humans carrying Upper Paleolithic technologies encountered Neandertals as they expanded out of Africa.

Highlights

  • A much-debated question in human evolution is the relationship between modern humans and Neandertals

  • These hypotheses make different predictions about the date of last gene exchange between the ancestors of Neandertals and modern non-Africans. We estimate this date by measuring the extent of linkage disequilibrium (LD) in the genomes of present-day Europeans and find that the last gene flow from Neandertals into Europeans likely occurred 37,000–86,000 years before the present (BP), and most likely 47,000–65,000 years ago

  • To study how LD decays with the distance in the genome, we computed the average value, D(x), of the measure of linkage disequilibrium D

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Summary

Introduction

A much-debated question in human evolution is the relationship between modern humans and Neandertals. Neandertals appear in the European fossil record about 230,000 years ago [1] and disappear about 30,000 year ago. They lived in Europe and western Asia with a range that extended as far east as Siberia [2] and as far south as the middle East. The overlap of Neandertals and modern humans in space and time suggests the possibility of interbreeding. Evidence, both for [3] and against interbreeding [4], have been put forth based on the analysis of modern human DNA. Mitochondrial DNA from multiple Neandertals has shown that Neandertals fall outside the range of modern human variation [5,6,7,8,9,10], low-levels of gene flow cannot be excluded [10,11,12]

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