The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes
The Agouti gene (ASIP) is one of the most important genes for coat color determination in mammals. It has a complex structure with several promoters and alternative non-coding first exons that are transcribed into mRNAs with different 5́UTR. These mRNA isoforms regulate the temporal and spatial expression of the gene, producing diverse pigmentation patterns. Here, we studied ASIP transcriptional variants and their expression in the skin of llamas with different coat color phenotypes. We also described the ASIP locus, including promoter usage and the splicing events that originate each transcript variant. Using 5́RACE-PCR we isolated seven ASIP transcripts with alternative 5’UTR, where exons 1A, 1A’, 1C, 1D, and a novel non-coding exon 1A” were identified. Additionally, new alternative spliced forms were found. The diversity of ASIP 5’UTRs is originated by a complex pattern of alternative promoter usage, multiple transcription start sites and splicing events that include exon skipping and alternative 3’ splicing site selection. We found that ASIP was highly expressed in llamas with white and brown phenotypes while black animals presented very low expression. The main responsible for this difference was a fusion transcript between ASIP and NCOA6 genes, which was present in the skin of white and brown llamas but not in the black ones. The rest of ASIP transcripts presented very low expression in the skin, indicating that the main regulation point for ASIP gene expression is at the transcriptional level. Nevertheless, the characteristics of the 5’UTRs sequences suggest that alternative transcripts could be regulated differently at the protein synthesis level.
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Format: | info:ar-repo/semantics/artículo biblioteca |
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Elsevier
2021-10-19T12:42:34Z
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Subjects: | Llama, Fenotipos, Genética, Expresión Génica, Llamas, Phenotypes, Genetics, Gene Expression, Agouti Gene, ASIP Gene, |
Online Access: | http://hdl.handle.net/20.500.12123/10524 https://www.sciencedirect.com/science/article/abs/pii/S0378111921006132 https://doi.org/10.1016/j.gene.2021.146018 |
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Llama Fenotipos Genética Expresión Génica Llamas Phenotypes Genetics Gene Expression Agouti Gene ASIP Gene Llama Fenotipos Genética Expresión Génica Llamas Phenotypes Genetics Gene Expression Agouti Gene ASIP Gene |
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Llama Fenotipos Genética Expresión Génica Llamas Phenotypes Genetics Gene Expression Agouti Gene ASIP Gene Llama Fenotipos Genética Expresión Génica Llamas Phenotypes Genetics Gene Expression Agouti Gene ASIP Gene Anello, Melina Daverio, Maria Silvana Rodriguez, S.S. Romero, Sandra Raquel Renieri, Carlo Vidal Rioja, Lidia Beatriz Di Rocco, Florencia The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes |
description |
The Agouti gene (ASIP) is one of the most important genes for coat color determination in mammals. It has a complex structure with several promoters and alternative non-coding first exons that are transcribed into mRNAs with different 5́UTR. These mRNA isoforms regulate the temporal and spatial expression of the gene, producing diverse pigmentation patterns. Here, we studied ASIP transcriptional variants and their expression in the skin of llamas with different coat color phenotypes. We also described the ASIP locus, including promoter usage and the splicing events that originate each transcript variant. Using 5́RACE-PCR we isolated seven ASIP transcripts with alternative 5’UTR, where exons 1A, 1A’, 1C, 1D, and a novel non-coding exon 1A” were identified. Additionally, new alternative spliced forms were found. The diversity of ASIP 5’UTRs is originated by a complex pattern of alternative promoter usage, multiple transcription start sites and splicing events that include exon skipping and alternative 3’ splicing site selection. We found that ASIP was highly expressed in llamas with white and brown phenotypes while black animals presented very low expression. The main responsible for this difference was a fusion transcript between ASIP and NCOA6 genes, which was present in the skin of white and brown llamas but not in the black ones. The rest of ASIP transcripts presented very low expression in the skin, indicating that the main regulation point for ASIP gene expression is at the transcriptional level. Nevertheless, the characteristics of the 5’UTRs sequences suggest that alternative transcripts could be regulated differently at the protein synthesis level. |
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info:ar-repo/semantics/artículo |
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Llama Fenotipos Genética Expresión Génica Llamas Phenotypes Genetics Gene Expression Agouti Gene ASIP Gene |
author |
Anello, Melina Daverio, Maria Silvana Rodriguez, S.S. Romero, Sandra Raquel Renieri, Carlo Vidal Rioja, Lidia Beatriz Di Rocco, Florencia |
author_facet |
Anello, Melina Daverio, Maria Silvana Rodriguez, S.S. Romero, Sandra Raquel Renieri, Carlo Vidal Rioja, Lidia Beatriz Di Rocco, Florencia |
author_sort |
Anello, Melina |
title |
The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes |
title_short |
The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes |
title_full |
The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes |
title_fullStr |
The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes |
title_full_unstemmed |
The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes |
title_sort |
asip gene in the llama (lama glama) : alternative transcripts, expression and relation with color phenotypes |
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Elsevier |
publishDate |
2021-10-19T12:42:34Z |
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http://hdl.handle.net/20.500.12123/10524 https://www.sciencedirect.com/science/article/abs/pii/S0378111921006132 https://doi.org/10.1016/j.gene.2021.146018 |
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oai:localhost:20.500.12123-105242021-10-19T12:47:27Z The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes Anello, Melina Daverio, Maria Silvana Rodriguez, S.S. Romero, Sandra Raquel Renieri, Carlo Vidal Rioja, Lidia Beatriz Di Rocco, Florencia Llama Fenotipos Genética Expresión Génica Llamas Phenotypes Genetics Gene Expression Agouti Gene ASIP Gene The Agouti gene (ASIP) is one of the most important genes for coat color determination in mammals. It has a complex structure with several promoters and alternative non-coding first exons that are transcribed into mRNAs with different 5́UTR. These mRNA isoforms regulate the temporal and spatial expression of the gene, producing diverse pigmentation patterns. Here, we studied ASIP transcriptional variants and their expression in the skin of llamas with different coat color phenotypes. We also described the ASIP locus, including promoter usage and the splicing events that originate each transcript variant. Using 5́RACE-PCR we isolated seven ASIP transcripts with alternative 5’UTR, where exons 1A, 1A’, 1C, 1D, and a novel non-coding exon 1A” were identified. Additionally, new alternative spliced forms were found. The diversity of ASIP 5’UTRs is originated by a complex pattern of alternative promoter usage, multiple transcription start sites and splicing events that include exon skipping and alternative 3’ splicing site selection. We found that ASIP was highly expressed in llamas with white and brown phenotypes while black animals presented very low expression. The main responsible for this difference was a fusion transcript between ASIP and NCOA6 genes, which was present in the skin of white and brown llamas but not in the black ones. The rest of ASIP transcripts presented very low expression in the skin, indicating that the main regulation point for ASIP gene expression is at the transcriptional level. Nevertheless, the characteristics of the 5’UTRs sequences suggest that alternative transcripts could be regulated differently at the protein synthesis level. IPAF Región NOA Fil: Anello, M. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Anello, M. Provincia de Buenos Aires. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Anello, M. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Daverio, Maria Silvana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Daverio, Maria Silvana. Provincia de Buenos Aires. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Daverio, Maria Silvana. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Daverio, Maria Silvana. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Departamento de Ciencias Biológicas. Cátedra de Biología; Argentin Fil: Rodriguez, S.S. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Rodriguez, S.S. Provincia de Buenos Aires. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Rodriguez, S.S. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Romero, Sandra Raquel. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto De Investigación y Desarrollo Tecnológico para la Agricultura Familiar Región NOA; Argentina Fil: Renieri, Carlo. University of Camerino. School of Pharmacy; Italia Fil: Vidal Rioja, Lidia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Vidal Rioja, Lidia. Provincia de Buenos Aires. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Vidal Rioja, Lidia. 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; Argentina Fil: Di Rocco, Florencia. Provincia de Buenos Aires. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Di Rocco, Florencia. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina info:eu-repo/date/embargoEnd/2022-10-19 2021-10-19T12:42:34Z 2021-10-19T12:42:34Z 2021-10 info:ar-repo/semantics/artículo info:eu-repo/semantics/article info:eu-repo/semantics/acceptedVersion http://hdl.handle.net/20.500.12123/10524 https://www.sciencedirect.com/science/article/abs/pii/S0378111921006132 0378-1119 https://doi.org/10.1016/j.gene.2021.146018 eng info:eu-repo/semantics/embargoedAccess application/pdf Elsevier Gene : 146018 (Available online 14 October 2021) |