The Genetics Underlying Male-Female Facial Sexual Dimorphism

dc.contributor.advisorHallgrimsson, Benedikt
dc.contributor.authorDa Silva, Cassidy
dc.contributor.committeememberWilson, Warren
dc.contributor.committeememberCote, Susanne
dc.date2022-02
dc.date.accessioned2021-12-23T21:31:07Z
dc.date.available2021-12-23T21:31:07Z
dc.date.issued2021-12-21
dc.description.abstractThe genetic mechanisms underlying facial sexual dimorphism are currently unknown. My thesis addresses this gap by shedding light on the genetic and biological mechanisms underlying sexual dimorphism in human facial shape, as well as normal facial variation more broadly. I evaluated the shape differences between males and females, scored their shapes for sexual dimorphism, and looked for genetic loci and genes that had significant associations with sexually dimorphic facial shape. While none of the SNPs reached genome-wide significance, testing revealed seven independent signals with suggestive associations (p < 1 × 10-5) to facial sexual dimorphism, spanning coding regions in four different genes. Three of these genes, RBFOX1, CACNA2D3 and ATP6V1E1, have previously been implicated in processes of craniofacial development. I also examined the shapes and genetic aetiologies associated with sex chromosome aneuploidies, Turner syndrome (X0) and Klinefelter syndrome (XXY), which yielded no clear indication of the role of the X chromosome in sexual dimorphism of the face. These findings support the most recent evidence that the same genes influence facial sexual dimorphism in both males and females. Furthermore, by identifying genes previously linked to normal facial variation, I provide preliminary evidence for developmental mechanisms underlying shared variation in facial sexual dimorphism between the sexes. Only by properly understanding the mechanisms underlying facial sexual dimorphism will we be able to form a complete picture of its role in human evolution.en_US
dc.identifier.citationDa Silva, C. (2021). The Genetics Underlying Male-Female Facial Sexual Dimorphism (Master's thesis, University of Calgary, Calgary, Canada). Retrieved from https://prism.ucalgary.ca.en_US
dc.identifier.doihttp://dx.doi.org/10.11575/PRISM/39475
dc.identifier.urihttp://hdl.handle.net/1880/114234
dc.language.isoengen_US
dc.publisher.facultyArtsen_US
dc.publisher.institutionUniversity of Calgaryen
dc.rightsUniversity of Calgary graduate students retain copyright ownership and moral rights for their thesis. You may use this material in any way that is permitted by the Copyright Act or through licensing that has been assigned to the document. For uses that are not allowable under copyright legislation or licensing, you are required to seek permission.en_US
dc.subjectGeometric morphometricsen_US
dc.subjectGWASen_US
dc.subjectFacial sexual dimorphismen_US
dc.subject.classificationAnthropologyen_US
dc.subject.classificationBiologyen_US
dc.subject.classificationGeneticsen_US
dc.titleThe Genetics Underlying Male-Female Facial Sexual Dimorphismen_US
dc.typemaster thesisen_US
thesis.degree.disciplineAnthropologyen_US
thesis.degree.grantorUniversity of Calgaryen_US
thesis.degree.nameMaster of Arts (MA)en_US
ucalgary.item.requestcopytrueen_US
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