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The genetic consequ...
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
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- Axelsson, Erik (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden
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- Ljungvall, Ingrid (author)
- Swedish 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.
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- Bhoumik, Priyasma (author)
- Novartis Inst BioMed Res, Translat Med, Basel, Switzerland.;Swiss Fed Inst Technol, Sci & IT Serv, Basel Campus, Basel, Switzerland.,Novartis Institutes for BioMedical Research, Switzerland
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- Bas Conn, Laura (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden
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- Murén, Eva (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University,Uppsala University, Sweden
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- Ohlsson, Åsa (author)
- Swedish 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.
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- Olsen, Lisbeth Hoier (author)
- Univ Copenhagen, Dept Vet & Anim Sci, Copenhagen, Denmark.,University of Copenhagen, Denmark
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- Engdahl, Karolina (author)
- Swedish 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.
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- Hagman, Ragnvi (author)
- Swedish 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.
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- Hanson, Jeanette (author)
- Swedish 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.
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- Kryvokhyzha, Dmytro (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi,Uppsala University, Sweden
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- Pettersson, Mats (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala University, Sweden
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- Grenet, Olivier (author)
- Novartis Inst BioMed Res, Translat Med, Basel, Switzerland.,Novartis Institutes for BioMedical Research, Switzerland
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- Moggs, Jonathan (author)
- Novartis Inst BioMed Res, Translat Med, Basel, Switzerland.,Novartis Institutes for BioMedical Research, Switzerland
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- Del Rio-Espinola, Alberto (author)
- Novartis Inst BioMed Res, Translat Med, Basel, Switzerland.,Novartis Institutes for BioMedical Research, Switzerland
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- Epe, Christian (author)
- Elanco Anim Hlth, Greenfield, IN USA.;Boehringer Ingelheim Anim Hlth, Ingelheim, Germany.
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- Taillon, Bruce (author)
- Elanco Anim Hlth, Greenfield, IN USA.
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- Tawari, Nilesh (author)
- Elanco Anim Hlth, Greenfield, IN USA.
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- Mane, Shrinivas (author)
- Elanco Anim Hlth, Greenfield, IN USA.
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- Hawkins, Troy (author)
- Elanco Anim Hlth, Greenfield, IN USA.
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- Hedhammar, Åke (author)
- Swedish 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.
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- Gruet, Philippe (author)
- Novartis Anim Hlth, St Aubin, Switzerland.
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- Häggström, Jens (author)
- Swedish 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.
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- Lindblad-Toh, Kerstin (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.,Uppsala University, Sweden
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(creator_code:org_t)
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- 2021-09-02
- 2021
- English.
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In: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 17:9
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Abstract
Subject headings
Close
- 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
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
- LANTBRUKSVETENSKAPER -- Bioteknologi med applikationer på växter och djur -- Genetik och förädling inom lantbruksvetenskap (hsv//swe)
- AGRICULTURAL SCIENCES -- Agricultural Biotechnology -- Genetics and Breeding in Agricultural Sciences (hsv//eng)
- LANTBRUKSVETENSKAPER -- Husdjursvetenskap -- Husdjursvetenskap (hsv//swe)
- AGRICULTURAL SCIENCES -- Animal and Dairy Sience -- Animal and Dairy Science. (hsv//eng)
- LANTBRUKSVETENSKAPER -- Husdjursvetenskap (hsv//swe)
- AGRICULTURAL SCIENCES -- Animal and Dairy Sience (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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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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show less...
- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cardiac and Card ...
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- AGRICULTURAL SCIENCES
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AGRICULTURAL SCI ...
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and Agricultural Bio ...
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and Genetics and Bre ...
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- AGRICULTURAL SCIENCES
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AGRICULTURAL SCI ...
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and Animal and Dairy ...
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and Animal and Dairy ...
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- AGRICULTURAL SCIENCES
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AGRICULTURAL SCI ...
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and Animal and Dairy ...
- Articles in the publication
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PLOS Genetics
- By the university
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Uppsala University
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Swedish University of Agricultural Sciences
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Linnaeus University