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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: Wiedemar, Natalie, Tetens, Jens, Jagannathan, Vidhya, Menoud, Annie, Neuenschwander, Samuel, Bruggmann, Rémy, Thaller, Georg, Drögemüller, Cord
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966897/
https://www.ncbi.nlm.nih.gov/pubmed/24671182
http://dx.doi.org/10.1371/journal.pone.0093435
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author Wiedemar, Natalie
Tetens, Jens
Jagannathan, Vidhya
Menoud, Annie
Neuenschwander, Samuel
Bruggmann, Rémy
Thaller, Georg
Drögemüller, Cord
author_facet Wiedemar, Natalie
Tetens, Jens
Jagannathan, Vidhya
Menoud, Annie
Neuenschwander, Samuel
Bruggmann, Rémy
Thaller, Georg
Drögemüller, Cord
author_sort Wiedemar, Natalie
collection PubMed
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.
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spelling pubmed-39668972014-03-31 Independent Polled Mutations Leading to Complex Gene Expression Differences in Cattle Wiedemar, Natalie Tetens, Jens Jagannathan, Vidhya Menoud, Annie Neuenschwander, Samuel Bruggmann, Rémy Thaller, Georg Drögemüller, Cord PLoS One Research Article 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. Public Library of Science 2014-03-26 /pmc/articles/PMC3966897/ /pubmed/24671182 http://dx.doi.org/10.1371/journal.pone.0093435 Text en © 2014 Wiedemar et al http://creativecommons.org/licenses/by/4.0/ 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 properly credited.
spellingShingle Research Article
Wiedemar, Natalie
Tetens, Jens
Jagannathan, Vidhya
Menoud, Annie
Neuenschwander, Samuel
Bruggmann, Rémy
Thaller, Georg
Drögemüller, Cord
Independent Polled Mutations Leading to Complex Gene Expression Differences in Cattle
title 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_short Independent Polled Mutations Leading to Complex Gene Expression Differences in Cattle
title_sort independent polled mutations leading to complex gene expression differences in cattle
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966897/
https://www.ncbi.nlm.nih.gov/pubmed/24671182
http://dx.doi.org/10.1371/journal.pone.0093435
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