Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama)
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) a...
| Main Authors: | , , , , |
|---|---|
| Format: | Artículo |
| Language: | Inglés |
| Published: |
2018
|
| Subjects: | |
| Online Access: | 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 |
| _version_ | 1855482969768067072 |
|---|---|
| author | Daverio, Maria Silvana Rigalt, Francisco Antonio Romero, Sandra Raquel Vidal Rioja, Lidia Beatriz Di Rocco, Florencia |
| author_browse | Daverio, Maria Silvana Di Rocco, Florencia Rigalt, Francisco Antonio Romero, Sandra Raquel Vidal Rioja, Lidia Beatriz |
| author_facet | Daverio, Maria Silvana Rigalt, Francisco Antonio Romero, Sandra Raquel Vidal Rioja, Lidia Beatriz Di Rocco, Florencia |
| author_sort | Daverio, Maria Silvana |
| collection | INTA Digital |
| 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. |
| format | Artículo |
| id | INTA1956 |
| institution | Instituto Nacional de Tecnología Agropecuaria (INTA -Argentina) |
| language | Inglés |
| publishDate | 2018 |
| publishDateRange | 2018 |
| publishDateSort | 2018 |
| record_format | dspace |
| spelling | INTA19562021-10-19T12:20:51Z Polymorphisms in MC1R and ASIP genes and their association with coat color phenotypes in llamas (Lama glama) Daverio, Maria Silvana Rigalt, Francisco Antonio Romero, Sandra Raquel Vidal Rioja, Lidia Beatriz Di Rocco, Florencia Llama Fenotipos Polimorfismo Genes Genética Llamas Phenotypes Polymorphism Genetics 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 2018-03-05T14:04:52Z 2018-03-05T14:04:52Z 2016-11 info:ar-repo/semantics/artículo info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 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 eng info:eu-repo/semantics/restrictedAccess application/pdf Small ruminant research 144 : 83-89. (November 2016) |
| spellingShingle | Llama Fenotipos Polimorfismo Genes Genética Llamas Phenotypes Polymorphism Genetics Daverio, Maria Silvana Rigalt, Francisco Antonio Romero, Sandra Raquel Vidal Rioja, Lidia Beatriz Di Rocco, Florencia 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) |
| 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_short | 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 |
| topic | Llama Fenotipos Polimorfismo Genes Genética Llamas Phenotypes Polymorphism Genetics |
| 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 |
| work_keys_str_mv | AT daveriomariasilvana polymorphismsinmc1randasipgenesandtheirassociationwithcoatcolorphenotypesinllamaslamaglama AT rigaltfranciscoantonio polymorphismsinmc1randasipgenesandtheirassociationwithcoatcolorphenotypesinllamaslamaglama AT romerosandraraquel polymorphismsinmc1randasipgenesandtheirassociationwithcoatcolorphenotypesinllamaslamaglama AT vidalriojalidiabeatriz polymorphismsinmc1randasipgenesandtheirassociationwithcoatcolorphenotypesinllamaslamaglama AT diroccoflorencia polymorphismsinmc1randasipgenesandtheirassociationwithcoatcolorphenotypesinllamaslamaglama |