Identification of Chimpanzee Genetic Variants in Genes Associated with Social Communication
Disciplines
Molecular and Cellular Neuroscience
Abstract (300 words maximum)
Current studies support the relationship between single nucleotide polymorphisms (SNPs) in the AVPR1A, FOXP2, and OXTR genes and autism spectrum disorder. Intriguingly, the SNP variant associated with ASD can vary in different human populations. To further understand these variants, we recently sequenced homologous AVPR1A, FOXP2, and OXTR loci in bonobos, the closest living relatives to humans. We found no difference in the bonobo equivalents of the human SNP sites but identified five novel bonobo-specific variants within 17-184 bases of the humans SNPs in FOXP2 and OXTR. Extending this study, we set out to amplify the region of DNA associated with these genes in chimpanzees, another primate that is closely related to humans. To date, we have amplified two loci and found no obvious differences between humans, chimps, and bonobos. Work is ongoing to sequence the remaining variants and to identify the genetic implications of these point mutations in non-human primates.
Academic department under which the project should be listed
CSM - Molecular and Cellular Biology
Primary Investigator (PI) Name
Martin Hudson
Identification of Chimpanzee Genetic Variants in Genes Associated with Social Communication
Current studies support the relationship between single nucleotide polymorphisms (SNPs) in the AVPR1A, FOXP2, and OXTR genes and autism spectrum disorder. Intriguingly, the SNP variant associated with ASD can vary in different human populations. To further understand these variants, we recently sequenced homologous AVPR1A, FOXP2, and OXTR loci in bonobos, the closest living relatives to humans. We found no difference in the bonobo equivalents of the human SNP sites but identified five novel bonobo-specific variants within 17-184 bases of the humans SNPs in FOXP2 and OXTR. Extending this study, we set out to amplify the region of DNA associated with these genes in chimpanzees, another primate that is closely related to humans. To date, we have amplified two loci and found no obvious differences between humans, chimps, and bonobos. Work is ongoing to sequence the remaining variants and to identify the genetic implications of these point mutations in non-human primates.