From high masked to high realized genetic load in inbred Scandinavian wolves
When new mutations arise at functional sites they are more likely to impair than improve fitness. If not removed by purifying selection, such deleterious mutations will generate a genetic load that can have negative fitness effects in small populations and increase the risk of extinction. This is re...
Published in: | Molecular Ecology |
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Language: | English |
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Uppsala universitet, Evolutionsbiologi
2023
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Online Access: | http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-501377 https://doi.org/10.1111/mec.16802 |
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ftuppsalauniv:oai:DiVA.org:uu-501377 2024-01-14T10:06:05+01:00 From high masked to high realized genetic load in inbred Scandinavian wolves Smeds, Linnéa Ellegren, Hans 2023 application/pdf http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-501377 https://doi.org/10.1111/mec.16802 eng eng Uppsala universitet, Evolutionsbiologi Molecular Ecology, 0962-1083, 2023, 32:7, s. 1567-1580 orcid:0000-0002-8415-9259 orcid:0000-0002-5035-1736 http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-501377 doi:10.1111/mec.16802 PMID 36458895 ISI:000897947900001 info:eu-repo/semantics/openAccess conservation genetics deleterious mutations genetic load Evolutionary Biology Evolutionsbiologi Genetics Genetik Article in journal info:eu-repo/semantics/article text 2023 ftuppsalauniv https://doi.org/10.1111/mec.16802 2023-12-20T23:31:57Z When new mutations arise at functional sites they are more likely to impair than improve fitness. If not removed by purifying selection, such deleterious mutations will generate a genetic load that can have negative fitness effects in small populations and increase the risk of extinction. This is relevant for the highly inbred Scandinavian wolf (Canis lupus) population, founded by only three wolves in the 1980s and suffering from inbreeding depression. We used functional annotation and evolutionary conservation scores to study deleterious variation in a total of 209 genomes from both the Scandinavian and neighbouring wolf populations in northern Europe. The masked load (deleterious mutations in heterozygote state) was highest in Russia and Finland with deleterious alleles segregating at lower frequency than neutral variation. Genetic drift in the Scandinavian population led to the loss of ancestral alleles, fixation of deleterious variants and a significant increase in the per-individual realized load (deleterious mutations in homozygote state; an increase by 45% in protein-coding genes) over five generations of inbreeding. Arrival of immigrants gave a temporary genetic rescue effect with ancestral alleles re-entering the population and thereby shifting deleterious alleles from homozygous into heterozygote genotypes. However, in the absence of permanent connectivity to Finnish and Russian populations, inbreeding has then again led to the exposure of deleterious mutations. These observations provide genome-wide insight into the magnitude of genetic load and genetic rescue at the molecular level, and in relation to population history. They emphasize the importance of securing gene flow in the management of endangered populations. Article in Journal/Newspaper Canis lupus Uppsala University: Publications (DiVA) Molecular Ecology 32 7 1567 1580 |
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Open Polar |
collection |
Uppsala University: Publications (DiVA) |
op_collection_id |
ftuppsalauniv |
language |
English |
topic |
conservation genetics deleterious mutations genetic load Evolutionary Biology Evolutionsbiologi Genetics Genetik |
spellingShingle |
conservation genetics deleterious mutations genetic load Evolutionary Biology Evolutionsbiologi Genetics Genetik Smeds, Linnéa Ellegren, Hans From high masked to high realized genetic load in inbred Scandinavian wolves |
topic_facet |
conservation genetics deleterious mutations genetic load Evolutionary Biology Evolutionsbiologi Genetics Genetik |
description |
When new mutations arise at functional sites they are more likely to impair than improve fitness. If not removed by purifying selection, such deleterious mutations will generate a genetic load that can have negative fitness effects in small populations and increase the risk of extinction. This is relevant for the highly inbred Scandinavian wolf (Canis lupus) population, founded by only three wolves in the 1980s and suffering from inbreeding depression. We used functional annotation and evolutionary conservation scores to study deleterious variation in a total of 209 genomes from both the Scandinavian and neighbouring wolf populations in northern Europe. The masked load (deleterious mutations in heterozygote state) was highest in Russia and Finland with deleterious alleles segregating at lower frequency than neutral variation. Genetic drift in the Scandinavian population led to the loss of ancestral alleles, fixation of deleterious variants and a significant increase in the per-individual realized load (deleterious mutations in homozygote state; an increase by 45% in protein-coding genes) over five generations of inbreeding. Arrival of immigrants gave a temporary genetic rescue effect with ancestral alleles re-entering the population and thereby shifting deleterious alleles from homozygous into heterozygote genotypes. However, in the absence of permanent connectivity to Finnish and Russian populations, inbreeding has then again led to the exposure of deleterious mutations. These observations provide genome-wide insight into the magnitude of genetic load and genetic rescue at the molecular level, and in relation to population history. They emphasize the importance of securing gene flow in the management of endangered populations. |
format |
Article in Journal/Newspaper |
author |
Smeds, Linnéa Ellegren, Hans |
author_facet |
Smeds, Linnéa Ellegren, Hans |
author_sort |
Smeds, Linnéa |
title |
From high masked to high realized genetic load in inbred Scandinavian wolves |
title_short |
From high masked to high realized genetic load in inbred Scandinavian wolves |
title_full |
From high masked to high realized genetic load in inbred Scandinavian wolves |
title_fullStr |
From high masked to high realized genetic load in inbred Scandinavian wolves |
title_full_unstemmed |
From high masked to high realized genetic load in inbred Scandinavian wolves |
title_sort |
from high masked to high realized genetic load in inbred scandinavian wolves |
publisher |
Uppsala universitet, Evolutionsbiologi |
publishDate |
2023 |
url |
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-501377 https://doi.org/10.1111/mec.16802 |
genre |
Canis lupus |
genre_facet |
Canis lupus |
op_relation |
Molecular Ecology, 0962-1083, 2023, 32:7, s. 1567-1580 orcid:0000-0002-8415-9259 orcid:0000-0002-5035-1736 http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-501377 doi:10.1111/mec.16802 PMID 36458895 ISI:000897947900001 |
op_rights |
info:eu-repo/semantics/openAccess |
op_doi |
https://doi.org/10.1111/mec.16802 |
container_title |
Molecular Ecology |
container_volume |
32 |
container_issue |
7 |
container_start_page |
1567 |
op_container_end_page |
1580 |
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1788060384285949952 |