The Evolutionary Origins of Autism Associated Genes and Their Role in Great Ape Socio-Communicative Behavior
type: CreativeWork
description: Autism Spectrum Disorder (ASD) is a set of neurological disorders characterized by reduced social interactions and deficits in verbal and nonverbal communication. Although there are no clear genetic markers for ASD, studies have found associations between gene single nucleotide polymorphisms (SNPs) and patients diagnosed with ASD. For this study, the focus is on OXTR, AVPR1A, and FOXP2. OXTR is reported to regulate empathy and stress reactivity while AVPR1A is reported to regulate stress management and territorial aggression, as well as social bonding and recognition. FOXP2 is one of the first genes to be associated with both speech and language recognition in humans. All 3 genes are strongly associated with autism and are involved with socio-communicative behavior. At the same time, all 3 have been investigated in great apes such as bonobos, chimpanzees, and gorillas. Great apes are the closest relatives to humans on the phylogenetic tree. They are also one of the few animal groups that have complex social communication that share fundamental characteristics with human language. Therefore, increasing our understanding of how genetic variation impacts social communication in great apes will aid in our understanding of typical and atypical social communication in humans. A total of 10 autism associated human SNP locations were analyzed in 11 bonobos for this project. In some, but not all cases, the human alternate allele associated with ASD is the reference allele for great apes, which suggests the human alternate allele is an ancestral allele in those instances. Results also show that these 11 bonobos show no variance at the SNP sites despite coming from different backgrounds; however, 5 bonobos show variance at a location not associated with autism. The findings in this project prompts research on more bonobos to see if there is a trend of homogeneity at autism associated SNP locations, investigation of these SNP locations in chimpanzees and gorillas, and a behavio…
abstract: Autism Spectrum Disorder (ASD) is a set of neurological disorders characterized by reduced social interactions and deficits in verbal and nonverbal communication. Although there are no clear genetic markers for ASD, studies have found associations between gene single nucleotide polymorphisms (SNPs) and patients diagnosed with ASD. For this study, the focus is on OXTR, AVPR1A, and FOXP2. OXTR is reported to regulate empathy and stress reactivity while AVPR1A is reported to regulate stress management and territorial aggression, as well as social bonding and recognition. FOXP2 is one of the first genes to be associated with both speech and language recognition in humans. All 3 genes are strongly associated with autism and are involved with socio-communicative behavior. At the same time, all 3 have been investigated in great apes such as bonobos, chimpanzees, and gorillas. Great apes are the closest relatives to humans on the phylogenetic tree. They are also one of the few animal groups that have complex social communication that share fundamental characteristics with human language. Therefore, increasing our understanding of how genetic variation impacts social communication in great apes will aid in our understanding of typical and atypical social communication in humans. A total of 10 autism associated human SNP locations were analyzed in 11 bonobos for this project. In some, but not all cases, the human alternate allele associated with ASD is the reference allele for great apes, which suggests the human alternate allele is an ancestral allele in those instances. Results also show that these 11 bonobos show no variance at the SNP sites despite coming from different backgrounds; however, 5 bonobos show variance at a location not associated with autism. The findings in this project prompts research on more bonobos to see if there is a trend of homogeneity at autism associated SNP locations, investigation of these SNP locations in chimpanzees and gorillas, and a behavio…
author: Abdulrauf, Azeeza
keywords: Single Nucleotide Polymorphism, Single Nucleotide Variant, Socio-Communicative Behavior, OXTR, AVPR1A, FOXP2, Behavior and Ethology, Bioinformatics, Biology, Evolution, Genetics, Integrative Biology, Other Neuroscience and Neurobiology
date published: 2021-11-17T08:00:00Z
date modified: 2026-07-24T02:43:51Z
provider: Kennesaw State University
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: Kennesaw State University