Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes

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dc.contributor.author	Clop, Alex
dc.contributor.author	Sharaf, Abdoallah
dc.contributor.author	Castelló, Anna
dc.contributor.author	Ramos-Onsins, Sebastián
dc.contributor.author	Cirera, Susanna
dc.contributor.author	Mercadé, Anna
dc.contributor.author	Derdak, Sophia
dc.contributor.author	Beltran, Sergi
dc.contributor.author	Huisman, Abe
dc.contributor.author	Fredholm, Merete
dc.contributor.author	van As, Pieter
dc.contributor.author	Sánchez, Armand
dc.date	2016
dc.identifier.citation	Clop A, Sharaf A, Castelló A, Ramos-Onsins S, Cirera S, Mercadé A, Derdak S, Beltran S, Huisman A, Fredholm M, van As P, Sánchez A. Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes. BMC Genomics. 2016; 17:685. DOI: 10.1186/s12864-016-2972-z
dc.identifier.citation	1471-2164
dc.identifier.citation	http://dx.doi.org/10.1186/s12864-016-2972-z
dc.identifier.uri	http://hdl.handle.net/10230/27511
dc.description.abstract	Background: Taste receptors (TASRs) are essential for the body’s recognition of chemical compounds. In the tongue, TASRs sense the sweet and umami and the toxin-related bitter taste thus promoting a particular eating behaviour. Moreover, their relevance in other organs is now becoming evident. In the intestine, they regulate nutrient absorption and gut motility. Upon ligand binding, TASRs activate the appetite-reward circuitry to signal the nervous system and keep body homeostasis. With the aim to identify genetic variation in the swine TASRs and in the genes from the appetite and the reward pathways, we have sequenced the exons of 201 TASRs and appetite-reward genes from 304 pigs belonging to ten breeds, wild boars and to two phenotypically extreme groups from a F2 resource with data on growth and fat deposition. Results: We identified 2,766 coding variants 395 of which were predicted to have a strong impact on protein sequence and function. 334 variants were present in only one breed and at predicted alternative allele frequency (pAAF) ≥ 0.1. The Asian pigs and the wild boars showed the largest proportion of breed specific variants. We also compared the pAAF of the two F2 groups and found that variants in TAS2R39 and CD36 display significant differences suggesting that these genes could influence growth and fat deposition. We developed a 128-variant genotyping assay and confirmed 57 of these variants. Conclusions: We have identified thousands of variants affecting TASRs as well as genes involved in the appetite and the reward mechanisms. Some of these genes have been already associated to taste preferences, appetite or behaviour in humans and mouse. We have also detected indications of a potential relationship of some of these genes with growth and fat deposition, which could have been caused by changes in taste preferences, appetite or reward and ultimately impact on food intake. A genotyping array with 57 variants in 31 of these genes is now available for genotyping and start elucidating the impact of genetic variation in these genes on pig biology and breeding.
dc.description.abstract	This work was funded by grants from the Spanish Ministry of Science and Innovation (project AGL2010-22358-C02-01) and the Spanish Ministry of Economy and Competitiveness (AGL2013-44978-R; CSD2007-00036, IPT-2012-0378-060000). Sophia Derdak is supported by the Parc Científic de Barcelona through the Torres Quevedo subprogram (MICINN) under grant agreement PTQ-12-05391.
dc.format	application/pdf
dc.language.iso	eng
dc.publisher	BioMed Central
dc.relation	BMC Genomics. 2016; 17:685
dc.relation	info:eu-repo/grantAgreement/ES/3PN/AGL2010-22358
dc.rights	info:eu-repo/semantics/openAccess
dc.rights	© 2016 The Author(s). Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
dc.rights	http://creativecommons.org/licenses/by/4.0/
dc.subject	Taste receptors
dc.subject	Appetite-reward pathways
dc.subject	Coding genetic variation
dc.subject	Genotyping array
dc.subject	Future association studies
dc.title	Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes
dc.type	info:eu-repo/semantics/article
dc.type	info:eu-repo/semantics/publishedVersion

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