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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Autores principales:	Corinne Fasquelle, Arnaud Sartelet, Wanbo Li, Marc Dive, Nico Tamma, Charles Michaux, Tom Druet, Ivo J Huijbers, Clare M Isacke, Wouter Coppieters, Michel Georges, Carole Charlier
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2009
Materias:	Genetics QH426-470
Acceso en línea:	https://doaj.org/article/f6af2d7b44a64acbb646ebcadb96833f
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spelling	oai:doaj.org-article:f6af2d7b44a64acbb646ebcadb96833f2021-12-02T20:03:08ZBalancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle.1553-73901553-740410.1371/journal.pgen.1000666https://doaj.org/article/f6af2d7b44a64acbb646ebcadb96833f2009-09-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/19779552/?tool=EBIhttps://doaj.org/toc/1553-7390https://doaj.org/toc/1553-7404We 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.Corinne FasquelleArnaud SarteletWanbo LiMarc DiveNico TammaCharles MichauxTom DruetIvo J HuijbersClare M IsackeWouter CoppietersMichel GeorgesCarole CharlierPublic Library of Science (PLoS)articleGeneticsQH426-470ENPLoS Genetics, Vol 5, Iss 9, p e1000666 (2009)
institution	DOAJ
collection	DOAJ
language	EN
topic	Genetics QH426-470
spellingShingle	Genetics QH426-470 Corinne Fasquelle Arnaud Sartelet Wanbo Li Marc Dive Nico Tamma Charles Michaux Tom Druet Ivo J Huijbers Clare M Isacke Wouter Coppieters Michel Georges Carole Charlier Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle.
description	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.
format	article
author	Corinne Fasquelle Arnaud Sartelet Wanbo Li Marc Dive Nico Tamma Charles Michaux Tom Druet Ivo J Huijbers Clare M Isacke Wouter Coppieters Michel Georges Carole Charlier
author_facet	Corinne Fasquelle Arnaud Sartelet Wanbo Li Marc Dive Nico Tamma Charles Michaux Tom Druet Ivo J Huijbers Clare M Isacke Wouter Coppieters Michel Georges Carole Charlier
author_sort	Corinne Fasquelle
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.
title_short	Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle.
title_full	Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle.
title_fullStr	Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle.
title_full_unstemmed	Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle.
title_sort	balancing selection of a frame-shift mutation in the mrc2 gene accounts for the outbreak of the crooked tail syndrome in belgian blue cattle.
publisher	Public Library of Science (PLoS)
publishDate	2009
url	https://doaj.org/article/f6af2d7b44a64acbb646ebcadb96833f
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Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle.

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