Date of Award
5-2026
Document Type
Thesis
Degree Name
Master of Science (MS)
Department
Genetics and Biochemistry
Committee Chair/Advisor
Kelsey Witt Dillon
Committee Member
James Lewis
Committee Member
Shyamalika Gopalan
Committee Member
Alex Feltus
Abstract
The peopling of the Americas created new opportunities for genetic adaptation as ancient populations encountered novel environments across North and South America. Previous research has shown that segments of Indigenous American ancestry contain elevated proportions of Denisovan alleles. The gene CNTNAP2, which is involved in brain development and neuronal function, contains a Denisovan-derived haplotype that represents a candidate locus for adaptive introgression in admixed American populations. A Denisovan-derived core haplotype approximately 55 kb in length was identified within intron 13 of CNTNAP2. This haplotype is primarily found in admixed American populations and occurs rarely outside the Americas, and typically in a heterozygous state. Screening of ancient genomes identified the haplotype in multiple individuals predating European colonization, indicating persistence through time in pre-contact populations. The introgressed region overlaps a single annotated feature, a long noncoding RNA of unknown function that shows expression in brain tissues. Additional scans for selection produced signals consistent with the maintenance of this haplotype in Indigenous American populations. These results indicate that a Denisovan-derived haplotype at CNTNAP2 persisted in Indigenous American populations and represents a candidate locus for archaic adaptive introgression in the Americas.
Recommended Citation
Barker, Matthew, "Denisovan Introgression and Selection at CNTNAP2 in Ancient and Modern American Populations" (2026). All Theses. 4724.
https://open.clemson.edu/all_theses/4724