Perilipin-2 (PLIN2) is a gene that codes for the protein adipophilin, which is responsible for lipid storage in tissues and is associated with obesity and other metabolic diseases including fatty liver. It is generally conserved among primates, including humans. Recent studies show that savanna monkeys (Chlorocebus spp.) in South Africa, which moved to a colder climate, have both increased body mass and a duplication of the PLIN2 gene, presumably in response to colder temperatures. This project investigates variation and selection in the PLIN2 gene in silico among 73 wild savanna monkeys using an established bioinformatics pipeline consisting of command line tools, R packages, and Linux-based programs. We found significant genetic differentiation in the PLIN2 gene region at the taxonomic and population level. There are 45 SNPs outside of Hardy-Weinberg equilibrium, one being a missense variant. Our Tajima’s D results suggest balancing selection in two 1kb regions (12:60604000-60605000, D ~ 2.2, Intron 7-8 and 12:60606000-60607000, D ~ 2.4, 3’UTR). While we did not see clear evidence of any positive selective sweeps, we found 11 SNPs with integrated haplotype scores (iHS) that reach the p<0.05 threshold. Out of these, five are also out of Hardy-Weinberg equilibrium, and eight show an association with ecological variables like insolation and temperature. Humans and savanna monkeys develop obesity and other fatty diseases similarly, and the PLIN2 gene may, in part, be implicated in these diseases. A better understanding of the variation in the PLIN2 gene could provide better insights into metabolic disorders in humans.
| Identifer | oai:union.ndltd.org:bu.edu/oai:open.bu.edu:2144/44043 |
| Date | 17 March 2022 |
| Creators | Sun, Erica Yunn-Hsi |
| Contributors | Schmitt, Christopher A. |
| Source Sets | Boston University |
| Language | en_US |
| Detected Language | English |
| Type | Thesis/Dissertation |
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