Abstract
dc:description.abstractGenomic structural variants constitute the majority of variable base pairs in primate genomes and affect gene function in multiple ways. While whole gene duplications and deletions are relatively well-studied, the biology of subexonic (i.e., within coding exon sequences), copy number variation remains elusive. The salivary MUC7 gene provides an opportunity for studying such variation, as it harbors copy number variable subexonic repeat sequences that encode for densely O-glycosylated domains (PTS-repeats) with microbe-binding properties. To understand the evolution of this gene, we analyzed mammalian and primate genomes within a comparative framework. Our analyses revealed that (i) MUC7 has emerged in the placental mammal ancestor and rapidly gained multiple sites for O-glycosylation; (ii) MUC7 has retained its extracellular activity in saliva in placental mammals; (iii) the anti-fungal domain of the protein was remodified under positive selection in the primate lineage; and (iv) MUC7 PTS-repeats have evolved recurrently and under adaptive constraints. Our results establish MUC7 as a major player in salivary adaptation, likely as a response to diverse pathogenic exposure in primates. On a broader scale, our study highlights variable subexonic repeats as a primary source for modular evolutionary innovation that lead to rapid functional adaptation.
Degree
thesis:*- Grantor dc:publisher
- State University of New York at Buffalo
- Year dc:date.issued
- 2018
Author and committee
dc:creator, dc:contributor.*- Author dc:creator
-
- Xu, Duo
- Contributors dc:contributor
-
- Gokcumen, Omer
- Biological Sciences
Subjects
dc:subject × 1Rights
dc:rights- Statement dc:rights
-
- Users of works found in University at Buffalo Institutional Repository (UBIR) are responsible for identifying and contacting the copyright owner for permission to reuse. University at Buffalo Libraries do not manage rights for copyright-protected works and cannot assist with permissions.
- Copyright retained by author.
- Language dc:language
- eng
Identifiers
dc:identifier.*- Handle dc:identifier
- http://hdl.handle.net/10477/77968