Independent polled mutations leading to complex gene expression differences in cattle.

The molecular regulation of horn growth in ruminants is still poorly understood. To investigate this process, we collected 1019 hornless (polled) animals from different cattle breeds. High-density SNP genotyping confirmed the presence of two different polled associated haplotypes in Simmental and Ho...

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Autores principales:	Natalie Wiedemar, Jens Tetens, Vidhya Jagannathan, Annie Menoud, Samuel Neuenschwander, Rémy Bruggmann, Georg Thaller, Cord Drögemüller
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2014
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/6f08af30dbd3451dafe80a68e7067cc7
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spelling	oai:doaj.org-article:6f08af30dbd3451dafe80a68e7067cc72021-11-18T08:25:59ZIndependent polled mutations leading to complex gene expression differences in cattle.1932-620310.1371/journal.pone.0093435https://doaj.org/article/6f08af30dbd3451dafe80a68e7067cc72014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24671182/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203The molecular regulation of horn growth in ruminants is still poorly understood. To investigate this process, we collected 1019 hornless (polled) animals from different cattle breeds. High-density SNP genotyping confirmed the presence of two different polled associated haplotypes in Simmental and Holstein cattle co-localized on BTA 1. We refined the critical region of the Simmental polled mutation to 212 kb and identified an overlapping region of 932 kb containing the Holstein polled mutation. Subsequently, whole genome sequencing of polled Simmental and Holstein cows was used to determine polled associated genomic variants. By genotyping larger cohorts of animals with known horn status we found a single perfectly associated insertion/deletion variant in Simmental and other beef cattle confirming the recently published possible Celtic polled mutation. We identified a total of 182 sequence variants as candidate mutations for polledness in Holstein cattle, including an 80 kb genomic duplication and three SNPs reported before. For the first time we showed that hornless cattle with scurs are obligate heterozygous for one of the polled mutations. This is in contrast to published complex inheritance models for the bovine scurs phenotype. Studying differential expression of the annotated genes and loci within the mapped region on BTA 1 revealed a locus (LOC100848215), known in cow and buffalo only, which is higher expressed in fetal tissue of wildtype horn buds compared to tissue of polled fetuses. This implicates that the presence of this long noncoding RNA is a prerequisite for horn bud formation. In addition, both transcripts associated with polledness in goat and sheep (FOXL2 and RXFP2), show an overexpression in horn buds confirming their importance during horn development in cattle.Natalie WiedemarJens TetensVidhya JagannathanAnnie MenoudSamuel NeuenschwanderRémy BruggmannGeorg ThallerCord DrögemüllerPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 3, p e93435 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Natalie Wiedemar Jens Tetens Vidhya Jagannathan Annie Menoud Samuel Neuenschwander Rémy Bruggmann Georg Thaller Cord Drögemüller Independent polled mutations leading to complex gene expression differences in cattle.
description	The molecular regulation of horn growth in ruminants is still poorly understood. To investigate this process, we collected 1019 hornless (polled) animals from different cattle breeds. High-density SNP genotyping confirmed the presence of two different polled associated haplotypes in Simmental and Holstein cattle co-localized on BTA 1. We refined the critical region of the Simmental polled mutation to 212 kb and identified an overlapping region of 932 kb containing the Holstein polled mutation. Subsequently, whole genome sequencing of polled Simmental and Holstein cows was used to determine polled associated genomic variants. By genotyping larger cohorts of animals with known horn status we found a single perfectly associated insertion/deletion variant in Simmental and other beef cattle confirming the recently published possible Celtic polled mutation. We identified a total of 182 sequence variants as candidate mutations for polledness in Holstein cattle, including an 80 kb genomic duplication and three SNPs reported before. For the first time we showed that hornless cattle with scurs are obligate heterozygous for one of the polled mutations. This is in contrast to published complex inheritance models for the bovine scurs phenotype. Studying differential expression of the annotated genes and loci within the mapped region on BTA 1 revealed a locus (LOC100848215), known in cow and buffalo only, which is higher expressed in fetal tissue of wildtype horn buds compared to tissue of polled fetuses. This implicates that the presence of this long noncoding RNA is a prerequisite for horn bud formation. In addition, both transcripts associated with polledness in goat and sheep (FOXL2 and RXFP2), show an overexpression in horn buds confirming their importance during horn development in cattle.
format	article
author	Natalie Wiedemar Jens Tetens Vidhya Jagannathan Annie Menoud Samuel Neuenschwander Rémy Bruggmann Georg Thaller Cord Drögemüller
author_facet	Natalie Wiedemar Jens Tetens Vidhya Jagannathan Annie Menoud Samuel Neuenschwander Rémy Bruggmann Georg Thaller Cord Drögemüller
author_sort	Natalie Wiedemar
title	Independent polled mutations leading to complex gene expression differences in cattle.
title_short	Independent polled mutations leading to complex gene expression differences in cattle.
title_full	Independent polled mutations leading to complex gene expression differences in cattle.
title_fullStr	Independent polled mutations leading to complex gene expression differences in cattle.
title_full_unstemmed	Independent polled mutations leading to complex gene expression differences in cattle.
title_sort	independent polled mutations leading to complex gene expression differences in cattle.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/6f08af30dbd3451dafe80a68e7067cc7
work_keys_str_mv	AT nataliewiedemar independentpolledmutationsleadingtocomplexgeneexpressiondifferencesincattle AT jenstetens independentpolledmutationsleadingtocomplexgeneexpressiondifferencesincattle AT vidhyajagannathan independentpolledmutationsleadingtocomplexgeneexpressiondifferencesincattle AT anniemenoud independentpolledmutationsleadingtocomplexgeneexpressiondifferencesincattle AT samuelneuenschwander independentpolledmutationsleadingtocomplexgeneexpressiondifferencesincattle AT remybruggmann independentpolledmutationsleadingtocomplexgeneexpressiondifferencesincattle AT georgthaller independentpolledmutationsleadingtocomplexgeneexpressiondifferencesincattle AT corddrogemuller independentpolledmutationsleadingtocomplexgeneexpressiondifferencesincattle
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Independent polled mutations leading to complex gene expression differences in cattle.

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