title: Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
authors: Centre for Research in Agricultural Genomics (CRAG) CSIC-IRTA-UAB-UB, Campus UAB, 08193 Cerdanyola del Valles, Catalonia, Spain. alex.clop@cragenomica.es.
authors: Alex
authors: A
authors: Clop
authors: Centre for Research in Agricultural Genomics (CRAG) CSIC-IRTA-UAB-UB, Campus UAB, 08193 Cerdanyola del Valles, Catalonia, Spain.|Faculty of agriculture, Ain Shams University, Khalifa El-Maamon st, Abbasiya sq, 11566, Cairo, Egypt.
authors: Abdoallah
authors: A
authors: Sharaf
authors: Centre for Research in Agricultural Genomics (CRAG) CSIC-IRTA-UAB-UB, Campus UAB, 08193 Cerdanyola del Valles, Catalonia, Spain.
authors: Anna
authors: A
authors: Castelló
authors: Centre for Research in Agricultural Genomics (CRAG) CSIC-IRTA-UAB-UB, Campus UAB, 08193 Cerdanyola del Valles, Catalonia, Spain.
authors: Sebastián
authors: S
authors: Ramos-Onsins
authors: Department of Veterinary Clinical and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Grønnegårdsvej 3, 1870, Frederiksberg, Denmark.
authors: Susanna
authors: S
authors: Cirera
authors: Centre for Research in Agricultural Genomics (CRAG) CSIC-IRTA-UAB-UB, Campus UAB, 08193 Cerdanyola del Valles, Catalonia, Spain.
authors: Anna
authors: A
authors: Mercadé
authors: CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri i Reixac 4, 08028, Barcelona, Spain.|Universitat Pompeu Fabra (UPF), Barcelona, Spain.
authors: Sophia
authors: S
authors: Derdak
authors: CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Baldiri i Reixac 4, 08028, Barcelona, Spain.|Universitat Pompeu Fabra (UPF), Barcelona, Spain.
authors: Sergi
authors: S
authors: Beltran
authors: Hypor, a Hendrix Genetics company, Spoorstraat 69, 5831 CK, Boxmeer, The Netherlands.
authors: Abe
authors: A
authors: Huisman
authors: Department of Veterinary Clinical and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Grønnegårdsvej 3, 1870, Frederiksberg, Denmark.
authors: Merete
authors: M
authors: Fredholm
authors: Hendrix Genetics Research & Technology Centre, Hendrix Genetics B.V, Spoorstraat 69, 5831 CK, Boxmeer, The Netherlands.
authors: Pieter
authors: P
authors: van As
authors: Centre for Research in Agricultural Genomics (CRAG) CSIC-IRTA-UAB-UB, Campus UAB, 08193 Cerdanyola del Valles, Catalonia, Spain. armand.sanchez@uab.cat.|Departament de Ciència Animal i dels Aliments, Universitat Autònoma de Barcelona (UAB), 08193 Cerdanyola del Valles, Catalonia, Spain. armand.sanchez@uab.cat.
authors: Armand
authors: A
authors: Sánchez
mesh_terms: D000818:Animals; D001066:Appetite / Q000235:genetics*; D001947:Breeding; D014644:Genetic Variation; D009154:Mutation; D010641:Phenotype; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D015203:Reproducibility of Results; D012641:Selection, Genetic; D017422:Sequence Analysis, DNA; D013552:Swine; D013649:Taste / Q000235:genetics*
chemical_list: D043562:Receptors, G-Protein-Coupled
keywords: Appetite-reward pathways; Coding genetic variation; Future association studies; Genotyping array; Taste receptors