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An Ultra-Dense Haploid Genetic Map for Evaluating the Highly Fragmented Genome Assembly of Norway Spruce (Picea abies)
Umeå University, Faculty of Science and Technology, Department of Ecology and Environmental Sciences. Umeå Plant Science Centre, Department of Forest Genetics and Plant Physiology, Swedish University of Agricultural Science, Umeå, Sweden; Department of Plant Biology, Uppsala BioCenter, Swedish University of Agricultural Science, Uppsala, Sweden.
Umeå University, Faculty of Science and Technology, Department of Ecology and Environmental Sciences. Department of Population Genetics, Center of Life and Food Sciences Weihenstephan, Technische Universität München.ORCID iD: 0000-0002-7111-9530
Umeå University, Faculty of Science and Technology, Department of Ecology and Environmental Sciences. Department of Plant Biology, Uppsala BioCenter, Swedish University of Agricultural Science, Uppsala, Sweden.
Umeå University, Faculty of Science and Technology, Department of Ecology and Environmental Sciences. Uppsala Multidisciplinary Center for Advanced Computational Science; Department of Ecology and Genetics: Evolutionary Biology, Uppsala University, Uppsala, Sweden.ORCID iD: 0000-0001-5235-6461
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2019 (English)In: G3: Genes, Genomes, Genetics, E-ISSN 2160-1836, Vol. 9, no 5, p. 1623-1632Article in journal (Refereed) Published
Abstract [en]

Norway spruce (Picea abies (L.) Karst.) is a conifer species of substanital economic and ecological importance. In common with most conifers, the P. abies genome is very large (similar to 20 Gbp) and contains a high fraction of repetitive DNA. The current P. abies genome assembly (v1.0) covers approximately 60% of the total genome size but is highly fragmented, consisting of >10 million scaffolds. The genome annotation contains 66,632 gene models that are at least partially validated (), however, the fragmented nature of the assembly means that there is currently little information available on how these genes are physically distributed over the 12 P. abies chromosomes. By creating an ultra-dense genetic linkage map, we anchored and ordered scaffolds into linkage groups, which complements the fine-scale information available in assembly contigs. Our ultra-dense haploid consensus genetic map consists of 21,056 markers derived from 14,336 scaffolds that contain 17,079 gene models (25.6% of the validated gene models) that we have anchored to the 12 linkage groups. We used data from three independent component maps, as well as comparisons with previously published Picea maps to evaluate the accuracy and marker ordering of the linkage groups. We demonstrate that approximately 3.8% of the anchored scaffolds and 1.6% of the gene models covered by the consensus map have likely assembly errors as they contain genetic markers that map to different regions within or between linkage groups. We further evaluate the utility of the genetic map for the conifer research community by using an independent data set of unrelated individuals to assess genome-wide variation in genetic diversity using the genomic regions anchored to linkage groups. The results show that our map is sufficiently dense to enable detailed evolutionary analyses across the P. abies genome.

Place, publisher, year, edition, pages
Genetics Society of America , 2019. Vol. 9, no 5, p. 1623-1632
Keywords [en]
genetic map, Norway spruce, Picea abies, sequence capture, genome assembly
National Category
Genetics and Genomics
Identifiers
URN: urn:nbn:se:umu:diva-159871DOI: 10.1534/g3.118.200840ISI: 000467271400031PubMedID: 30898899Scopus ID: 2-s2.0-85065783386OAI: oai:DiVA.org:umu-159871DiVA, id: diva2:1322040
Projects
Bio4Energy
Funder
Knut and Alice Wallenberg FoundationBio4EnergyAvailable from: 2019-06-10 Created: 2019-06-10 Last updated: 2025-02-07Bibliographically approved
In thesis
1. The roles of demography and natural selection in shaping genome-wide variation of Norway spruce
Open this publication in new window or tab >>The roles of demography and natural selection in shaping genome-wide variation of Norway spruce
2020 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Understanding the relative contribution of genetic drift, natural selection, and mutation to genetic variation, and quantifying adaptive evolution and the effects of natural selection in species are enduring goals of evolutionary genetics. Norway spruce (Picea abies) is one of the most important conifer species that dominates from both an ecological and economical point of view in many boreal ecosystems. Recently published reference genome of Norway spruce makes it possible to perform population genomic studies to understand the basis of genetic variation and evolutionary effects of natural selection in P. abies by using next-generation sequencing (NGS) data. 

We create an ultra-dense genetic linkage map for Norway spruce using sequence capture data. The consensus genetic map consists of 21,056 markers derived from 14,336 scaffolds that contain 17,079 gene models (25.6% of the validated gene models) that we have anchored to the 12 linkage groups (LGs). We also demonstrate, however, that approximately 3.8% of the anchored scaffolds and 1.6% of the gene models covered by the consensus map have likely assembly errors. By performing population genetic analyses using the genomic regions anchored to LGs, our genetic linkage map is sufficiently dense to enable detailed evolutionary analyses across the P. abies genome.

In order to understand how different evolutionary forces have shaped patterns of nucleotide diversity in Norway spruce, we perform population genomic analyses using whole-genome resequencing data. We find that genetic diversity is low across a number of populations in spite of a very wide geographic distribution of P. abies. The demographic history of several reoccurring bottlenecks with concomitant decreases in effective population size, the recurrent natural selection (both purifying and positive selection), and the low overall mutation rates seen in conifers, together make contribute to the loss of genome-wide nucleotide diversity in Norway spruce.

We quantify adaptive evolution and the effects of natural selection across the Norway spruce whole genome. The results show that negative selection is very limited in coding regions, while positive selection is rare in coding regions but very strong in non-coding regions, suggesting the great importance of regulatory changes in evolutionary history of P. abies. We further find a positive correlation between adaptive rate with recombination rate and a negative correlation between adaptive rate and gene density, suggesting a widespread influence from Hill-Robertson interference to efficiency of protein adaptation in P. abies. The distinct population statistics between genomic regions under either positive or balancing selection with that under neutral regions indicate impact from natural selection to genomic architecture of Norway spruce.

Place, publisher, year, edition, pages
Umeå: Umeå University, 2020. p. 58
Keywords
Norway spruce, whole-genome resequencing, variant calling, genetic linkage map, nucleotide diversity, natural selection
National Category
Ecology Evolutionary Biology
Identifiers
urn:nbn:se:umu:diva-174652 (URN)978-91-7855-321-1 (ISBN)978-91-7855-320-4 (ISBN)
Public defence
2020-09-25, KBC huset, Lilla Hörsalen, Umeå, 13:00 (English)
Opponent
Supervisors
Available from: 2020-09-03 Created: 2020-08-29 Last updated: 2024-07-02Bibliographically approved

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Bernhardsson, CarolinaVidalis, AmaryllisWang, XiScofield, DouglasSchiffthaler, BastianStreet, NathanielIngvarsson, Pär K.

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Bernhardsson, CarolinaVidalis, AmaryllisWang, XiScofield, DouglasSchiffthaler, BastianStreet, NathanielIngvarsson, Pär K.
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Department of Ecology and Environmental SciencesUmeå Plant Science Centre (UPSC)Department of Plant Physiology
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