The effects of relatedness and sex-biased demographic processes on human genetic variation
Abstract/Contents
- Abstract
- Many evolutionary processes affect human genetic variation. One of these processes, consanguinity (mating between closely related individuals) increases the frequency at which identical genomic segments are inherited along separate paths of descent. This pairing of segments increases the fraction of the genome that is shared within or between individuals: the fraction that lies in runs of homozygosity (ROH) or that contains identical-by-descent (IBD) segments. Consanguinity is relatively common globally, with couples who are second cousins (or closer) as well as their offspring perhaps representing an estimated 10% of the human population. The types and degree of consanguinity vary widely across cultures and affect patterns of shared segments. This variation provides an opportunity to study how a cultural practice such as consanguinity can influence patterns of genetic variation that are observed in the genome. Genomic sharing, both within and between individuals in a population, can be studied by noting that ROH and IBD at a genomic site are inversely proportional to its coalescence time: the time at which a pair of copies of the site find a common ancestor. First-cousin consanguinity can take one of four forms differing in the configuration of sexes in the pedigree of the male and female cousins who join in a consanguineous union: patrilateral parallel, patrilateral cross, matrilateral parallel, and matrilateral cross. Because of the different configurations of sexes in the pedigree, these four types of first-cousin consanguinity, which are equivalent in their effects on the autosomes, are expected to have differing effects on coalescence times (and therefore ROH and IBD) on the X chromosome. Over several chapters, this dissertation models each of these types of consanguinity to study the effect that each has on X-chromosomal genomic sharing relative to autosomal genomic sharing.
Description
| Type of resource | text |
|---|---|
| Form | electronic resource; remote; computer; online resource |
| Extent | 1 online resource. |
| Place | California |
| Place | [Stanford, California] |
| Publisher | [Stanford University] |
| Copyright date | 2023; ©2023 |
| Publication date | 2023; 2023 |
| Issuance | monographic |
| Language | English |
Creators/Contributors
| Author | Cotter, Daniel Juetten |
|---|---|
| Degree supervisor | Rosenberg, Noah |
| Thesis advisor | Rosenberg, Noah |
| Thesis advisor | Montgomery, Stephen |
| Thesis advisor | Pritchard, Jonathan |
| Thesis advisor | Tang, Hua |
| Degree committee member | Montgomery, Stephen |
| Degree committee member | Pritchard, Jonathan |
| Degree committee member | Tang, Hua |
| Associated with | Stanford University, School of Medicine |
| Associated with | Stanford University, Department of Genetics |
Subjects
| Genre | Theses |
|---|---|
| Genre | Text |
Bibliographic information
| Statement of responsibility | Daniel Juetten Cotter. |
|---|---|
| Note | Submitted to the Department of Genetics. |
| Thesis | Thesis Ph.D. Stanford University 2023. |
| Location | https://purl.stanford.edu/qb897xw6209 |
Access conditions
- Copyright
- © 2023 by Daniel Juetten Cotter
- License
- This work is licensed under a Creative Commons Attribution Non Commercial 3.0 Unported license (CC BY-NC).
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