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Stella K. Kantartzi (ed.), Microsatellites: Methods and Protocols, Methods in Molecular Biology, vol. 1006,
DOI 10.1007/978-1-62703-389-3_6, © Springer Science+Business Media, LLC 2013
Chapter 6
Next-Generation Sequencing for High-Throughput Molecular
Ecology: A Step-by-Step Protocol for Targeted Multilocus
Genotyping by Pyrosequencing
Jonathan B. Puritz and Robert J. Toonen
Abstract
Next-generation sequencing technology can now provide population biologists and phylogeographers
with information at the genomic scale; however, many pertinent questions in population genetics and
phylogeography can be answered effectively with modest levels of genomic information. For the past two
decades, most population-level studies have lacked nuclear DNA (nDNA) sequence data due to the com-
plications and cost of amplifying and sequencing diploid loci. However, pyrosequencing of emulsion PCR
reactions, amplifying from only one molecule at a time, can generate megabases of clonally amplified loci at
high coverage, thereby greatly simplifying allelic sequence determination. Here, we present a step-by-step
methodology for utilizing the 454 GS FLX Titanium pyrosequencing platform to simultaneously sequence
16 populations (at 20 individuals per population) at 10 different nDNA loci (3,200 loci in total) in one
plate of sequencing for less than the cost of traditional Sanger sequencing.
Key words 454, NGS, nDNA, Population genetics, Phylogeography , Sequencing cost, Sanger
1 Introduction
For 20 years, mitochondrial DNA (mtDNA) has been the standard
molecular sequence marker for population geneticists and phylo-
geographers (1, 2). The mitochondrial genome, with a rapid muta-
tion rate and small effective population size, contains a wealth of
information for recent population histories. Moreover, mtDNA
loci are easy to prime, amplify, and sequence due to uniparental
inheritance and a lack of recombination. However, the mtDNA
genome is essentially a single marker and cannot alone represent all of
the evolutionary processes acting upon a population (3, 4). Thus, the
need to incorporate nDNA sequence data into analyses has been
widely recognized by the field over the last 10 years (5–8).
The use of nDNA sequence loci in phylogeography and popu-
lation genetics has been limited by laboratory and analytical difficulties
(reviewed in 7, 9, 10). nDNA loci that are polymorphic at the