Balancing Selection of a Frame-Shift Mutation in the MRC2 Gene Accounts for the Outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle
We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome in cattle. The resulting frame-shift reveals a premature stop codon that causes nonsense-mediated decay of the mutant messenger RNA, and the...
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| Published in | PLoS genetics Vol. 5; no. 9; p. e1000666 |
|---|---|
| Main Authors | , , , , , , , , , , , |
| Format | Journal Article Web Resource |
| Language | English |
| Published |
United States
Public Library of Science
01.09.2009
Public Library of Science (PLoS) |
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| Online Access | Get full text |
| ISSN | 1553-7404 1553-7390 1553-7404 |
| DOI | 10.1371/journal.pgen.1000666 |
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| Abstract | We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome in cattle. The resulting frame-shift reveals a premature stop codon that causes nonsense-mediated decay of the mutant messenger RNA, and the virtual absence of functional Endo180 protein in affected animals. Cases exhibit skeletal anomalies thought to result from impaired extracellular matrix remodeling during ossification, and as of yet unexplained muscular symptoms. We demonstrate that carrier status is very significantly associated with desired characteristics in the general population, including enhanced muscular development, and that the resulting heterozygote advantage caused a selective sweep which explains the unexpectedly high frequency (25%) of carriers in the Belgian Blue Cattle Breed. |
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| AbstractList | We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome in cattle. The resulting frame-shift reveals a premature stop codon that causes nonsense-mediated decay of the mutant messenger RNA, and the virtual absence of functional Endo180 protein in affected animals. Cases exhibit skeletal anomalies thought to result from impaired extracellular matrix remodeling during ossification, and as of yet unexplained muscular symptoms. We demonstrate that carrier status is very significantly associated with desired characteristics in the general population, including enhanced muscular development, and that the resulting heterozygote advantage caused a selective sweep which explains the unexpectedly high frequency (25%) of carriers in the Belgian Blue Cattle Breed. We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome in cattle. The resulting frame-shift reveals a premature stop codon that causes nonsense-mediated decay of the mutant messenger RNA, and the virtual absence of functional Endo180 protein in affected animals. Cases exhibit skeletal anomalies thought to result from impaired extracellular matrix remodeling during ossification, and as of yet unexplained muscular symptoms. We demonstrate that carrier status is very significantly associated with desired characteristics in the general population, including enhanced muscular development, and that the resulting heterozygote advantage caused a selective sweep which explains the unexpectedly high frequency (25%) of carriers in the Belgian Blue Cattle Breed.We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome in cattle. The resulting frame-shift reveals a premature stop codon that causes nonsense-mediated decay of the mutant messenger RNA, and the virtual absence of functional Endo180 protein in affected animals. Cases exhibit skeletal anomalies thought to result from impaired extracellular matrix remodeling during ossification, and as of yet unexplained muscular symptoms. We demonstrate that carrier status is very significantly associated with desired characteristics in the general population, including enhanced muscular development, and that the resulting heterozygote advantage caused a selective sweep which explains the unexpectedly high frequency (25%) of carriers in the Belgian Blue Cattle Breed. We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome in cattle. The resulting frame-shift reveals a premature stop codon that causes nonsense-mediated decay of the mutant messenger RNA, and the virtual absence of functional Endo180 protein in affected animals. Cases exhibit skeletal anomalies thought to result from impaired extracellular matrix remodeling during ossification, and as of yet unexplained muscular symptoms. We demonstrate that carrier status is very significantly associated with desired characteristics in the general population, including enhanced muscular development, and that the resulting heterozygote advantage caused a selective sweep which explains the unexpectedly high frequency (25%) of carriers in the Belgian Blue Cattle Breed. We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome in cattle. The resulting frame-shift reveals a premature stop codon that causes nonsense-mediated decay of the mutant messenger RNA, and the virtual absence of functional Endo180 protein in affected animals. Cases exhibit skeletal anomalies thought to result from impaired extracellular matrix remodeling during ossification, and as of yet unexplained muscular symptoms. We demonstrate that carrier status is very significantly associated with desired characteristics in the general population, including enhanced muscular development, and that the resulting heterozygote advantage caused a selective sweep which explains the unexpectedly high frequency (25%) of carriers in the Belgian Blue Cattle Breed. Livestock are being subject to intense artificial selection aimed at ever-increasing, sometimes extreme, production phenotypes. This is well-illustrated by the exceptional muscular hypertrophy characterizing the “double-muscled” Belgian Blue Cattle Breed (BBCB). We herein identify a loss-of-function mutation of the bovine MRC2 gene that increases muscle mass in heterozygotes, yet causes skeletal and muscular malformations known as Crooked Tail Syndrome (CTS) in homozygotes. As a result of the “heterozygote advantage”, the MRC2 c.2904_2905delAG mutation has swept through the BBCB population, resulting in as many as 25% carrier animals and causing a sudden burst of CTS cases. These findings highlight one of the risks associated with pushing domestic animals to their physiological limits by intense artificial selection. |
| Audience | Academic |
| Author | Druet, Tom Isacke, Clare M. Fasquelle, Corinne Li, Wanbo Sartelet, Arnaud Michaux, Charles Tamma, Nico Georges, Michel Charlier, Carole Huijbers, Ivo J. Dive, Marc Coppieters, Wouter |
| AuthorAffiliation | Stanford University School of Medicine, United States of America 2 Unit of Bioinformatics, Department of Animal Sciences, Faculty of Veterinary Medicine, University of Liège, Liège, Belgium 3 Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, United Kingdom 1 Unit of Animal Genomics, GIGA-R, Department of Animal Sciences, Faculty of Veterinary Medicine, University of Liège, Liège, Belgium |
| AuthorAffiliation_xml | – name: Stanford University School of Medicine, United States of America – name: 1 Unit of Animal Genomics, GIGA-R, Department of Animal Sciences, Faculty of Veterinary Medicine, University of Liège, Liège, Belgium – name: 2 Unit of Bioinformatics, Department of Animal Sciences, Faculty of Veterinary Medicine, University of Liège, Liège, Belgium – name: 3 Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, United Kingdom |
| Author_xml | – sequence: 1 givenname: Corinne surname: Fasquelle fullname: Fasquelle, Corinne – sequence: 2 givenname: Arnaud surname: Sartelet fullname: Sartelet, Arnaud – sequence: 3 givenname: Wanbo surname: Li fullname: Li, Wanbo – sequence: 4 givenname: Marc surname: Dive fullname: Dive, Marc – sequence: 5 givenname: Nico surname: Tamma fullname: Tamma, Nico – sequence: 6 givenname: Charles surname: Michaux fullname: Michaux, Charles – sequence: 7 givenname: Tom surname: Druet fullname: Druet, Tom – sequence: 8 givenname: Ivo J. surname: Huijbers fullname: Huijbers, Ivo J. – sequence: 9 givenname: Clare M. surname: Isacke fullname: Isacke, Clare M. – sequence: 10 givenname: Wouter surname: Coppieters fullname: Coppieters, Wouter – sequence: 11 givenname: Michel surname: Georges fullname: Georges, Michel – sequence: 12 givenname: Carole surname: Charlier fullname: Charlier, Carole |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/19779552$$D View this record in MEDLINE/PubMed |
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| Copyright | COPYRIGHT 2009 Public Library of Science Fasquelle et al. 2009 2009 Fasquelle et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Fasquelle C, Sartelet A, Li W, Dive M, Tamma N, et al. (2009) Balancing Selection of a Frame-Shift Mutation in the MRC2 Gene Accounts for the Outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle. PLoS Genet 5(9): e1000666. doi:10.1371/journal.pgen.1000666 |
| Copyright_xml | – notice: COPYRIGHT 2009 Public Library of Science – notice: Fasquelle et al. 2009 – notice: 2009 Fasquelle et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Fasquelle C, Sartelet A, Li W, Dive M, Tamma N, et al. (2009) Balancing Selection of a Frame-Shift Mutation in the MRC2 Gene Accounts for the Outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle. PLoS Genet 5(9): e1000666. doi:10.1371/journal.pgen.1000666 |
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| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Rilouke scopus-id:2-s2.0-70349668999 Current address: Key Laboratory for Animal Biotechnology of Jiangxi Province and the Ministry of Agriculture of China, NanChang, People's Republic of China. Conceived and designed the experiments: MG CC. Performed the experiments: CF AS WL NT IJH CC. Analyzed the data: CF AS WL CM TD IJH CMI MG CC. Contributed reagents/materials/analysis tools: AS MD IJH CMI WC. Wrote the paper: MG CC. Mutation screening, NMD: CF. Case collection, necropsy, phenotypic description, pedigree analysis: AS. Mutation screening: WL. Case collection: MD. Diagnostic test: NT. Animal model: CM. Selective sweep: TD. Western blotting and immunohistochemistry: IJH, CMI. Custom iSelect illumina panel: WC. Designed experiments, analyzed data, wrote the manuscript, and supervised the project: CC, MG. |
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| Snippet | We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome... We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome... We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail... |
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| SubjectTerms | Animals Base Pairing - genetics Base Sequence Belgium - epidemiology Cattle Cattle - genetics Cattle Diseases - epidemiology Cattle Diseases - genetics Cell receptors Codon, Nonsense - genetics Computer Simulation Disease Outbreaks Diseases Frameshift Mutation - genetics Gene Expression Regulation Gene mutations Genes Genetic aspects Genetics Genetics & genetic processes Genetics and Genomics Genetics and Genomics/Animal Genetics Genetics and Genomics/Comparative Genomics Genetics and Genomics/Disease Models Génétique & processus génétiques Health aspects Heterozygote Life sciences Membrane Glycoproteins - genetics Molecular Sequence Data Mutation Open Reading Frames - genetics Organ Size Organ Specificity Penetrance Physiological aspects Receptors, Mitogen - genetics Receptors, Mitogen - metabolism RNA Stability - genetics RNA, Messenger - genetics RNA, Messenger - metabolism Sciences du vivant Selection, Genetic Sequence Deletion |
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| Title | Balancing Selection of a Frame-Shift Mutation in the MRC2 Gene Accounts for the Outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/19779552 https://www.proquest.com/docview/734058470 http://orbi.ulg.ac.be/handle/2268/27252 https://pubmed.ncbi.nlm.nih.gov/PMC2739430 https://doaj.org/article/f6af2d7b44a64acbb646ebcadb96833f http://dx.doi.org/10.1371/journal.pgen.1000666 |
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