Detecting Human Adaptations in Populations of the Andean Highlands Restricted; Files Only

Abstract

Few whole genome population genetics studies have been conducted in the highlands of Ecuador, limiting what is known about human settlement and consequent adaptations to high-altitude regions of the Andes Mountains. Human adaptations arise over time that are specific to populations. If an isolated population is exposed to an environment over a significant period, these adaptations may become incorporated into a population's DNA. To test this, whole genomes of 15 modern individuals living in northern and southern Ecuador are analyzed using selection scans Ohana and iHS. The programs detect recent positive selection acting on the two populations of Ecuadorians, identifying genetic loci contributing to phenotypes, functional consequences, involved in human adaptions to high-altitude regions. It is hypothesized that of the 15 individuals living in high-altitude environments, there are positions on the chromosomes under positive selection that have functional consequences on the individuals’ phenotypes. To validate the putative positive selection of the intronic, exonic, and intergenic loci amongst the populations, genome browsers are used to investigate the phenotypes related to the associated genes of the loci. Amongst the most strongly selected genes were ANO7, PIK3CB, GALNT13, OCA2, and HAND1. Functional consequences of these genes include the promotion of angiogenesis and erythropoiesis. OCA2 was one of the most strongly selected genes; it assists in increased melanin production. The findings identify specific genes contributing to adaptations still prevalent and utilized in the DNA of Indigenous individuals living in the Andes Mountains today.

 

Table of Contents

Chapter 1: An Introduction to Ancient DNA.....................................1

1.1 Public Interest in Genetics Research…………………………............ 2

1.2 Advances and Origins of the Study of Ancient DNA…………......... 3

1.3 Genetic Research of Indigenous Communities………………...........5

1.4 Lack of Indigenous Representation in Genetic Databases.............9

Chapter 2: A National Identity ……………………………………………….10

Chapter 3: Populating High Altitude Regions of the Andes…………… 13

Chapter 4: Methods…………………………………………………………..... 20

Chapter 5: Results……………………………………………………………....25

5.1 ANO7…………………………………………………………….….............26

5.2 PIK3CB………………………………………………………….….............28

5.3 GALNT13…………………………………………………………..............29

5.4 HAND1………………………………………………………...........……...30

5.5 OCA2……………………………………………………….......……….......31

5.6 Regulating the Hypoxia-Inducible Transcription Factor (HIF)..... 33

Chapter 6: Limitations & Future Directions……………………………….34

About this Honors Thesis

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School	Emory College
Department	Anthropology
Degree	B.S.
Submission	Honors Thesis
Language	English
Research Field	Anthropology, Archaeology Biology, Biostatistics Anthropology, Medical and Forensic
Palabra Clave	South America high-altitude genetics human adaptation Andes Mountains population genetics
Committee Chair / Thesis Advisor	John Lindo, Emory University
Committee Members	Marcela Benitez, Emory University Arri Eisen, Emory University

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