Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)

Autores
Daverio, Maria Silvana; Rigalt, Francisco Antonio; Romero, Sandra Raquel; Vidal Rioja, Lidia Beatriz; Di Rocco, Florencia
Año de publicación
2016
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The melanocortin 1-receptor (MC1R) and the agouti signaling protein (ASIP) are the major genes controlling the type and location of pigments produced in mammals. In recent years, polymorphisms in these genes have been associated with coat color variation in a number of species. Llamas (Lama glama) are characterized by a great diversity of coat colors. However, the genetic basis of coat color determination is still unknown. Here, we sequenced the MC1R and ASIP genes in llamas and studied the association between the polymorphisms identified and the coat color. Sequence analysis revealed ten nonsynonymous single nucleotide polymorphisms in the MC1R gene. Three main haplotypes were identified, none of which were completely associated to a particular color phenotype. However, significant association was detected between the MC1R*1 haplotype and the presence of pigmented coat (P < 0.0001). Compared to the wild allele, MC1R*1 carried two amino acid substitutions, p.G126S and p.V87 M. This last replacement occurs at a highly conserved residue among mammals and the same substitution has been previously associated to melanic phenotypes in avian species. Furthermore, two polymorphisms in ASIP exon 4, a 57 bp deletion (c.325_381del) and c.292C > T that are both predicted to have a deleterious effect on the protein, were found in homozygous state or combined in most llamas with eumelanic coat.
EEA Catamarca
Fil: Daverio, Maria Silvana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Rigalt, Francisco Antonio. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Catamarca; Argentina
Fil: Romero, Sandra Raquel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Abra Pampa; Argentina
Fil: Vidal Rioja, Lidia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Di Rocco, Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fuente
Small ruminant research 144 : 83-89. (November 2016)
Materia
Llama
Fenotipos
Polimorfismo
Genes
Genética
Llamas
Phenotypes
Polymorphism
Genetics
Nivel de accesibilidad
acceso restringido
Condiciones de uso
Repositorio
INTA Digital (INTA)
Institución
Instituto Nacional de Tecnología Agropecuaria
OAI Identificador
oai:localhost:20.500.12123/1956
Acceder
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oai_identifier_str oai:localhost:20.500.12123/1956
network_acronym_str INTADig
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network_name_str INTA Digital (INTA)
spelling Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)Daverio, Maria SilvanaRigalt, Francisco AntonioRomero, Sandra RaquelVidal Rioja, Lidia BeatrizDi Rocco, FlorenciaLlamaFenotiposPolimorfismoGenesGenéticaLlamasPhenotypesPolymorphismGeneticsThe melanocortin 1-receptor (MC1R) and the agouti signaling protein (ASIP) are the major genes controlling the type and location of pigments produced in mammals. In recent years, polymorphisms in these genes have been associated with coat color variation in a number of species. Llamas (Lama glama) are characterized by a great diversity of coat colors. However, the genetic basis of coat color determination is still unknown. Here, we sequenced the MC1R and ASIP genes in llamas and studied the association between the polymorphisms identified and the coat color. Sequence analysis revealed ten nonsynonymous single nucleotide polymorphisms in the MC1R gene. Three main haplotypes were identified, none of which were completely associated to a particular color phenotype. However, significant association was detected between the MC1R*1 haplotype and the presence of pigmented coat (P < 0.0001). Compared to the wild allele, MC1R*1 carried two amino acid substitutions, p.G126S and p.V87 M. This last replacement occurs at a highly conserved residue among mammals and the same substitution has been previously associated to melanic phenotypes in avian species. Furthermore, two polymorphisms in ASIP exon 4, a 57 bp deletion (c.325_381del) and c.292C > T that are both predicted to have a deleterious effect on the protein, were found in homozygous state or combined in most llamas with eumelanic coat.EEA CatamarcaFil: Daverio, Maria Silvana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Rigalt, Francisco Antonio. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Catamarca; ArgentinaFil: Romero, Sandra Raquel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Abra Pampa; ArgentinaFil: Vidal Rioja, Lidia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Di Rocco, Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina2018-03-05T14:04:52Z2018-03-05T14:04:52Z2016-11info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfhttp://hdl.handle.net/20.500.12123/1956https://www.sciencedirect.com/science/article/pii/S09214488163019730921-4488https://doi.org/10.1016/j.smallrumres.2016.08.003Small ruminant research 144 : 83-89. (November 2016)reponame:INTA Digital (INTA)instname:Instituto Nacional de Tecnología Agropecuariaenginfo:eu-repo/semantics/restrictedAccess2025-09-04T09:47:09Zoai:localhost:20.500.12123/1956instacron:INTAInstitucionalhttp://repositorio.inta.gob.ar/Organismo científico-tecnológicoNo correspondehttp://repositorio.inta.gob.ar/oai/requesttripaldi.nicolas@inta.gob.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:l2025-09-04 09:47:10.042INTA Digital (INTA) - Instituto Nacional de Tecnología Agropecuariafalse
dc.title.none.fl_str_mv Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)
title Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)
spellingShingle Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)
Daverio, Maria Silvana
Llama
Fenotipos
Polimorfismo
Genes
Genética
Llamas
Phenotypes
Polymorphism
Genetics
title_short Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)
title_full Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)
title_fullStr Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)
title_full_unstemmed Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)
title_sort Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)
dc.creator.none.fl_str_mv Daverio, Maria Silvana
Rigalt, Francisco Antonio
Romero, Sandra Raquel
Vidal Rioja, Lidia Beatriz
Di Rocco, Florencia
author Daverio, Maria Silvana
author_facet Daverio, Maria Silvana
Rigalt, Francisco Antonio
Romero, Sandra Raquel
Vidal Rioja, Lidia Beatriz
Di Rocco, Florencia
author_role author
author2 Rigalt, Francisco Antonio
Romero, Sandra Raquel
Vidal Rioja, Lidia Beatriz
Di Rocco, Florencia
author2_role author
author
author
author
dc.subject.none.fl_str_mv Llama
Fenotipos
Polimorfismo
Genes
Genética
Llamas
Phenotypes
Polymorphism
Genetics
topic Llama
Fenotipos
Polimorfismo
Genes
Genética
Llamas
Phenotypes
Polymorphism
Genetics
dc.description.none.fl_txt_mv The melanocortin 1-receptor (MC1R) and the agouti signaling protein (ASIP) are the major genes controlling the type and location of pigments produced in mammals. In recent years, polymorphisms in these genes have been associated with coat color variation in a number of species. Llamas (Lama glama) are characterized by a great diversity of coat colors. However, the genetic basis of coat color determination is still unknown. Here, we sequenced the MC1R and ASIP genes in llamas and studied the association between the polymorphisms identified and the coat color. Sequence analysis revealed ten nonsynonymous single nucleotide polymorphisms in the MC1R gene. Three main haplotypes were identified, none of which were completely associated to a particular color phenotype. However, significant association was detected between the MC1R*1 haplotype and the presence of pigmented coat (P < 0.0001). Compared to the wild allele, MC1R*1 carried two amino acid substitutions, p.G126S and p.V87 M. This last replacement occurs at a highly conserved residue among mammals and the same substitution has been previously associated to melanic phenotypes in avian species. Furthermore, two polymorphisms in ASIP exon 4, a 57 bp deletion (c.325_381del) and c.292C > T that are both predicted to have a deleterious effect on the protein, were found in homozygous state or combined in most llamas with eumelanic coat.
EEA Catamarca
Fil: Daverio, Maria Silvana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Rigalt, Francisco Antonio. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Catamarca; Argentina
Fil: Romero, Sandra Raquel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Abra Pampa; Argentina
Fil: Vidal Rioja, Lidia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Di Rocco, Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
description The melanocortin 1-receptor (MC1R) and the agouti signaling protein (ASIP) are the major genes controlling the type and location of pigments produced in mammals. In recent years, polymorphisms in these genes have been associated with coat color variation in a number of species. Llamas (Lama glama) are characterized by a great diversity of coat colors. However, the genetic basis of coat color determination is still unknown. Here, we sequenced the MC1R and ASIP genes in llamas and studied the association between the polymorphisms identified and the coat color. Sequence analysis revealed ten nonsynonymous single nucleotide polymorphisms in the MC1R gene. Three main haplotypes were identified, none of which were completely associated to a particular color phenotype. However, significant association was detected between the MC1R*1 haplotype and the presence of pigmented coat (P < 0.0001). Compared to the wild allele, MC1R*1 carried two amino acid substitutions, p.G126S and p.V87 M. This last replacement occurs at a highly conserved residue among mammals and the same substitution has been previously associated to melanic phenotypes in avian species. Furthermore, two polymorphisms in ASIP exon 4, a 57 bp deletion (c.325_381del) and c.292C > T that are both predicted to have a deleterious effect on the protein, were found in homozygous state or combined in most llamas with eumelanic coat.
publishDate 2016
dc.date.none.fl_str_mv 2016-11
2018-03-05T14:04:52Z
2018-03-05T14:04:52Z
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/20.500.12123/1956
https://www.sciencedirect.com/science/article/pii/S0921448816301973
0921-4488
https://doi.org/10.1016/j.smallrumres.2016.08.003
url http://hdl.handle.net/20.500.12123/1956
https://www.sciencedirect.com/science/article/pii/S0921448816301973
https://doi.org/10.1016/j.smallrumres.2016.08.003
identifier_str_mv 0921-4488
dc.language.none.fl_str_mv eng
language eng
dc.rights.none.fl_str_mv info:eu-repo/semantics/restrictedAccess
eu_rights_str_mv restrictedAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv Small ruminant research 144 : 83-89. (November 2016)
reponame:INTA Digital (INTA)
instname:Instituto Nacional de Tecnología Agropecuaria
reponame_str INTA Digital (INTA)
collection INTA Digital (INTA)
instname_str Instituto Nacional de Tecnología Agropecuaria
repository.name.fl_str_mv INTA Digital (INTA) - Instituto Nacional de Tecnología Agropecuaria
repository.mail.fl_str_mv tripaldi.nicolas@inta.gob.ar
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score 12.623145

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