Identifying Effects of Interbreeding with Neanderthals on Phenotype

Irene Kaplow, Stanford University

Assemblies of Neanderthal genomes over the last few years have demonstrated that humans interbred with Neanderthals. As a result, the genomes of many humans outside of Africa contain small parts of the Neanderthal genome. However, the effects of having parts of the Neanderthal genome on humans have not been explored. In this study, we identify alleles of single nucleotide polymorphisms (SNPs) that are likely to have come from Neanderthals. We then use genome-wide gene expression and genotype information from multiple individuals to identify genes whose expressions are highly correlated with the number of copies of a Neanderthal allele that a person has; these genes’ expressions may be affected by the allele from Neanderthals. We also find alleles from Neanderthals that are known to be correlated with diseases and other phenotypes, which suggests that having parts of the Neanderthal genome can affect how likely someone is to have a disease.

Abstract Author(s): Irene M. Kaplow, Brandon J. Rice, Richard E. Green, and Hunter B. Fraser