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The Importance of Endophenotypes to Evaluate the Relationship between Genotype and External Phenotype

With the exception of a few Mendelian traits, almost all phenotypes (traits) in livestock science are quantitative or complex traits regulated by the expression of many genes. For most of the complex traits, differential expression of genes, rather than genomic variation in the gene coding sequences...

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Detalles Bibliográficos
Autores principales: te Pas, Marinus F. W., Madsen, Ole, Calus, Mario P. L., Smits, Mari A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5344004/
https://www.ncbi.nlm.nih.gov/pubmed/28241430
http://dx.doi.org/10.3390/ijms18020472
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author te Pas, Marinus F. W.
Madsen, Ole
Calus, Mario P. L.
Smits, Mari A.
author_facet te Pas, Marinus F. W.
Madsen, Ole
Calus, Mario P. L.
Smits, Mari A.
author_sort te Pas, Marinus F. W.
collection PubMed
description With the exception of a few Mendelian traits, almost all phenotypes (traits) in livestock science are quantitative or complex traits regulated by the expression of many genes. For most of the complex traits, differential expression of genes, rather than genomic variation in the gene coding sequences, is associated with the genotype of a trait. The expression profiles of the animal’s transcriptome, proteome and metabolome represent endophenotypes that influence/regulate the externally-observed phenotype. These expression profiles are generated by interactions between the animal’s genome and its environment that range from the cellular, up to the husbandry environment. Thus, understanding complex traits requires knowledge about not only genomic variation, but also environmental effects that affect genome expression. Gene products act together in physiological pathways and interaction networks (of pathways). Due to the lack of annotation of the functional genome and ontologies of genes, our knowledge about the various biological systems that contribute to the development of external phenotypes is sparse. Furthermore, interaction with the animals’ microbiome, especially in the gut, greatly influences the external phenotype. We conclude that a detailed understanding of complex traits requires not only understanding of variation in the genome, but also its expression at all functional levels.
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spelling pubmed-53440042017-03-16 The Importance of Endophenotypes to Evaluate the Relationship between Genotype and External Phenotype te Pas, Marinus F. W. Madsen, Ole Calus, Mario P. L. Smits, Mari A. Int J Mol Sci Review With the exception of a few Mendelian traits, almost all phenotypes (traits) in livestock science are quantitative or complex traits regulated by the expression of many genes. For most of the complex traits, differential expression of genes, rather than genomic variation in the gene coding sequences, is associated with the genotype of a trait. The expression profiles of the animal’s transcriptome, proteome and metabolome represent endophenotypes that influence/regulate the externally-observed phenotype. These expression profiles are generated by interactions between the animal’s genome and its environment that range from the cellular, up to the husbandry environment. Thus, understanding complex traits requires knowledge about not only genomic variation, but also environmental effects that affect genome expression. Gene products act together in physiological pathways and interaction networks (of pathways). Due to the lack of annotation of the functional genome and ontologies of genes, our knowledge about the various biological systems that contribute to the development of external phenotypes is sparse. Furthermore, interaction with the animals’ microbiome, especially in the gut, greatly influences the external phenotype. We conclude that a detailed understanding of complex traits requires not only understanding of variation in the genome, but also its expression at all functional levels. MDPI 2017-02-22 /pmc/articles/PMC5344004/ /pubmed/28241430 http://dx.doi.org/10.3390/ijms18020472 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
te Pas, Marinus F. W.
Madsen, Ole
Calus, Mario P. L.
Smits, Mari A.
The Importance of Endophenotypes to Evaluate the Relationship between Genotype and External Phenotype
title The Importance of Endophenotypes to Evaluate the Relationship between Genotype and External Phenotype
title_full The Importance of Endophenotypes to Evaluate the Relationship between Genotype and External Phenotype
title_fullStr The Importance of Endophenotypes to Evaluate the Relationship between Genotype and External Phenotype
title_full_unstemmed The Importance of Endophenotypes to Evaluate the Relationship between Genotype and External Phenotype
title_short The Importance of Endophenotypes to Evaluate the Relationship between Genotype and External Phenotype
title_sort importance of endophenotypes to evaluate the relationship between genotype and external phenotype
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5344004/
https://www.ncbi.nlm.nih.gov/pubmed/28241430
http://dx.doi.org/10.3390/ijms18020472
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