title: Recent progress and challenges in population genetics of polyploid organisms: an overview of current state-of-the-art molecular and statistical tools.
abstract: Despite the importance of polyploidy and the increasing availability of new genomic data, there remain important gaps in our knowledge of polyploid population genetics. These gaps arise from the complex nature of polyploid data (e.g. multiple alleles and loci, mixed inheritance patterns, association between ploidy and mating system variation). Furthermore, many of the standard tools for population genetics that have been developed for diploids are often not feasible for polyploids. This review aims to provide an overview of the state-of-the-art in polyploid population genetics and to identify the main areas where further development of molecular techniques and statistical theory is required. We review commonly used molecular tools (amplified fragment length polymorphism, microsatellites, Sanger sequencing, next-generation sequencing and derived technologies) and their challenges associated with their use in polyploid populations: that is, allele dosage determination, null alleles, difficulty of distinguishing orthologues from paralogues and copy number variation. In addition, we review the approaches that have been used for population genetic analysis in polyploids and their specific problems. These problems are in most cases directly associated with dosage uncertainty and the problem of inferring allele frequencies and assumptions regarding inheritance. This leads us to conclude that for advancing the field of polyploid population genetics, most priority should be given to development of new molecular approaches that allow efficient dosage determination, and to further development of analytical approaches to circumvent dosage uncertainty and to accommodate 'flexible' modes of inheritance. In addition, there is a need for more simulation-based studies that test what kinds of biases could result from both existing and novel approaches.
authors.affiliation: Département de Biologie, Université du Québec à Rimouski, Québec, QC, Canada, G5L 3A1.
authors.forename: France
authors.initials: F
authors.lastname: Dufresne
authors.forename: Marc
authors.initials: M
authors.lastname: Stift
authors.forename: Roland
authors.initials: R
authors.lastname: Vergilino
authors.forename: Barbara K
authors.initials: BK
authors.lastname: Mable
mesh_terms: D000483:Alleles; D054458:Amplified Fragment Length Polymorphism Analysis / Q000379:methods; D056915:DNA Copy Number Variations; D018628:Gene Dosage; D005787:Gene Frequency; D005819:Genetic Markers; D005828:Genetics, Population / Q000379:methods*; D040582:Inheritance Patterns; D018895:Microsatellite Repeats; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D011123:Polyploidy; D017422:Sequence Analysis, DNA / Q000379:methods; D013223:Statistics as Topic / Q000379:methods
chemical_list: D005819:Genetic Markers
keywords: hybridization; mixed modes of reproduction; next-generation sequencing; polyploidy