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The genetic consequ...
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Axelsson, ErikUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden
(author)
The genetic consequences of dog breed formation-Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels
- Article/chapterEnglish2021
Publisher, publication year, extent ...
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2021-09-02
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Public Library of Science (PLoS),2021
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-456209
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-456209URI
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https://doi.org/10.1371/journal.pgen.1009726DOI
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https://res.slu.se/id/publ/113588URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:lnu:diva-120252URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Selective breeding for desirable traits in strictly controlled populations has generated an extraordinary diversity in canine morphology and behaviour, but has also led to loss of genetic variation and random entrapment of disease alleles. As a consequence, specific diseases are now prevalent in certain breeds, but whether the recent breeding practice led to an overall increase in genetic load remains unclear. Here we generate whole genome sequencing (WGS) data from 20 dogs per breed from eight breeds and document a similar to 10% rise in the number of derived alleles per genome at evolutionarily conserved sites in the heavily bottlenecked cavalier King Charles spaniel breed (cKCs) relative to in most breeds studied here. Our finding represents the first clear indication of a relative increase in levels of deleterious genetic variation in a specific breed, arguing that recent breeding practices probably were associated with an accumulation of genetic load in dogs. We then use the WGS data to identify candidate risk alleles for the most common cause for veterinary care in cKCs-the heart disease myxomatous mitral valve disease (MMVD). We verify a potential link to MMVD for candidate variants near the heart specific NEBL gene in a dachshund population and show that two of the NEBL candidate variants have regulatory potential in heartderived cell lines and are associated with reduced NEBL isoform nebulette expression in papillary muscle (but not in mitral valve, nor in left ventricular wall). Alleles linked to reduced nebulette expression may hence predispose cKCs and other breeds to MMVD via loss of papillary muscle integrity.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Ljungvall, IngridSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences,Swedish University of Agricultural Sciences, Sweden,Swedish Univ Agr Sci, Dept Clin Sci, Uppsala, Sweden.(Swepub:slu)48949
(author)
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Bhoumik, PriyasmaNovartis Inst BioMed Res, Translat Med, Basel, Switzerland.;Swiss Fed Inst Technol, Sci & IT Serv, Basel Campus, Basel, Switzerland.,Novartis Institutes for BioMedical Research, Switzerland
(author)
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Bas Conn, LauraUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden(Swepub:lnu)labaaa
(author)
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Murén, EvaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University,Uppsala University, Sweden(Swepub:slu)51383
(author)
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Ohlsson, ÅsaSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics,Swedish University of Agricultural Sciences, Sweden,Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden.(Swepub:slu)52807
(author)
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Olsen, Lisbeth HoierUniv Copenhagen, Dept Vet & Anim Sci, Copenhagen, Denmark.,University of Copenhagen, Denmark
(author)
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Engdahl, KarolinaSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences,Swedish University of Agricultural Sciences, Sweden,Swedish Univ Agr Sci, Dept Clin Sci, Uppsala, Sweden.(Swepub:slu)104765
(author)
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Hagman, RagnviSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences,Swedish University of Agricultural Sciences, Sweden,Swedish Univ Agr Sci, Dept Clin Sci, Uppsala, Sweden.(Swepub:slu)50755
(author)
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Hanson, JeanetteSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences,Swedish University of Agricultural Sciences, Sweden,Swedish Univ Agr Sci, Dept Clin Sci, Uppsala, Sweden.(Swepub:slu)47065
(author)
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Kryvokhyzha, DmytroUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi,Uppsala University, Sweden(Swepub:uu)dmykr161
(author)
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Pettersson, MatsUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden(Swepub:uu)mapet205
(author)
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Grenet, OlivierNovartis Inst BioMed Res, Translat Med, Basel, Switzerland.,Novartis Institutes for BioMedical Research, Switzerland
(author)
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Moggs, JonathanNovartis Inst BioMed Res, Translat Med, Basel, Switzerland.,Novartis Institutes for BioMedical Research, Switzerland
(author)
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Del Rio-Espinola, AlbertoNovartis Inst BioMed Res, Translat Med, Basel, Switzerland.,Novartis Institutes for BioMedical Research, Switzerland
(author)
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Epe, ChristianElanco Anim Hlth, Greenfield, IN USA.;Boehringer Ingelheim Anim Hlth, Ingelheim, Germany.
(author)
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Taillon, BruceElanco Anim Hlth, Greenfield, IN USA.
(author)
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Tawari, NileshElanco Anim Hlth, Greenfield, IN USA.
(author)
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Mane, ShrinivasElanco Anim Hlth, Greenfield, IN USA.
(author)
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Hawkins, TroyElanco Anim Hlth, Greenfield, IN USA.
(author)
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Hedhammar, ÅkeSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences,Swedish University of Agricultural Sciences, Sweden,Swedish Univ Agr Sci, Dept Clin Sci, Uppsala, Sweden.(Swepub:slu)49648
(author)
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Gruet, PhilippeNovartis Anim Hlth, St Aubin, Switzerland.
(author)
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Häggström, JensSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences,Swedish University of Agricultural Sciences, Sweden,Swedish Univ Agr Sci, Dept Clin Sci, Uppsala, Sweden.(Swepub:slu)48327
(author)
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Lindblad-Toh, KerstinUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.,Uppsala University, Sweden(Swepub:uu)kerli865
(author)
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Uppsala universitetInstitutionen för medicinsk biokemi och mikrobiologi
(creator_code:org_t)
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Sveriges lantbruksuniversitet
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In:PLOS Genetics: Public Library of Science (PLoS)17:91553-73901553-7404
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- By the author/editor
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Axelsson, Erik
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Ljungvall, Ingri ...
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Bhoumik, Priyasm ...
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Bas Conn, Laura
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Murén, Eva
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Ohlsson, Åsa
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show more...
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Olsen, Lisbeth H ...
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Engdahl, Karolin ...
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Hagman, Ragnvi
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Hanson, Jeanette
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Kryvokhyzha, Dmy ...
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Pettersson, Mats
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Grenet, Olivier
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Moggs, Jonathan
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Del Rio-Espinola ...
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Epe, Christian
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Taillon, Bruce
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Tawari, Nilesh
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Mane, Shrinivas
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Hawkins, Troy
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Hedhammar, Åke
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Gruet, Philippe
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Häggström, Jens
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Lindblad-Toh, Ke ...
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PLOS Genetics
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Uppsala University
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Swedish University of Agricultural Sciences
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Linnaeus University