Identification of Novel Genetic Variants in Bonobo Genes Associated with Communication

Disciplines

Genetics | Genomics | Molecular Genetics

Abstract (300 words maximum)

Arginine Vasopressin Receptor 1A (AVPR1A), Forkhead Box Protein 2 (FOXP2), and Oxytocin Receptor (OXTR) are genes in which variants are frequently implicated in Autism Spectrum Disorder (ASD). These genes are also responsible for the control of many different social behaviors in humans, including pair bonding and language acquisition. Several studies have been conducted on how these genes impact humans, however, there are obvious limitations to human behavioral studies when genetic factors are considered. For this reason, a model organism that can be closely monitored and have its environment controlled is ideal for gathering evidence of genetic causes for behavior. Bonobos are one of humanity’s closest genetic relatives, and their similar social behaviors make them ideal models for investigating these genes of interest. ASD-related Single Nucleotide Polymorphism (SNP) sites, previously identified from ASD studies in humans, were mapped onto the bonobo genome and Polymerase Chain Reaction (PCR) primers designed for each of the sites of interest. Buccal swabs were obtained from thirteen bonobos from two different facilities. DNA was purified from the samples and PCRs were run for each of the subject samples at each SNP site. Sanger sequencing was performed on the PCR products and the data was compiled and analyzed. We found that the ASD-related sequences at the SNP sites were conserved for all thirteen bonobos and showed no genetic variation. Additionally, novel SNP sites were found adjacent to some of the target SNP sites. The 100% conservation of ASD-related SNPs in bonobos suggests these regions do not tolerate any evolutionary variation. However, the variation seen in the novel SNP sites suggests some genetic plasticity in these ASD-related genes that may manifest in communicative behavioral differences in bonobo populations.

Academic department under which the project should be listed

CSM - Molecular and Cellular Biology

Primary Investigator (PI) Name

Martin Hudson

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Identification of Novel Genetic Variants in Bonobo Genes Associated with Communication

Arginine Vasopressin Receptor 1A (AVPR1A), Forkhead Box Protein 2 (FOXP2), and Oxytocin Receptor (OXTR) are genes in which variants are frequently implicated in Autism Spectrum Disorder (ASD). These genes are also responsible for the control of many different social behaviors in humans, including pair bonding and language acquisition. Several studies have been conducted on how these genes impact humans, however, there are obvious limitations to human behavioral studies when genetic factors are considered. For this reason, a model organism that can be closely monitored and have its environment controlled is ideal for gathering evidence of genetic causes for behavior. Bonobos are one of humanity’s closest genetic relatives, and their similar social behaviors make them ideal models for investigating these genes of interest. ASD-related Single Nucleotide Polymorphism (SNP) sites, previously identified from ASD studies in humans, were mapped onto the bonobo genome and Polymerase Chain Reaction (PCR) primers designed for each of the sites of interest. Buccal swabs were obtained from thirteen bonobos from two different facilities. DNA was purified from the samples and PCRs were run for each of the subject samples at each SNP site. Sanger sequencing was performed on the PCR products and the data was compiled and analyzed. We found that the ASD-related sequences at the SNP sites were conserved for all thirteen bonobos and showed no genetic variation. Additionally, novel SNP sites were found adjacent to some of the target SNP sites. The 100% conservation of ASD-related SNPs in bonobos suggests these regions do not tolerate any evolutionary variation. However, the variation seen in the novel SNP sites suggests some genetic plasticity in these ASD-related genes that may manifest in communicative behavioral differences in bonobo populations.