The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes

Autores
Anello, Melina; Daverio, Maria Silvana; Rodriguez, S.S.; Romero, Sandra Raquel; Renieri, Carlo; Vidal Rioja, Lidia Beatriz; Di Rocco, Florencia
Año de publicación
2021
Idioma
inglés
Tipo de recurso
artículo
Estado
versión aceptada
Descripción
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
Fuente
Gene : 146018 (Available online 14 October 2021)
Materia
Llama
Fenotipos
Genética
Expresión Génica
Llamas
Phenotypes
Genetics
Gene Expression
Agouti Gene
ASIP Gene
Nivel de accesibilidad
acceso restringido
Condiciones de uso
Repositorio
INTA Digital (INTA)
Institución
Instituto Nacional de Tecnología Agropecuaria
OAI Identificador
oai:localhost:20.500.12123/10524

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oai_identifier_str oai:localhost:20.500.12123/10524
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network_name_str INTA Digital (INTA)
spelling The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypesAnello, MelinaDaverio, Maria SilvanaRodriguez, S.S.Romero, Sandra RaquelRenieri, CarloVidal Rioja, Lidia BeatrizDi Rocco, FlorenciaLlamaFenotiposGenéticaExpresión GénicaLlamasPhenotypesGeneticsGene ExpressionAgouti GeneASIP GeneThe 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 NOAFil: Anello, M. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Anello, M. Provincia de Buenos Aires. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Anello, M. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Daverio, Maria Silvana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Daverio, Maria Silvana. Provincia de Buenos Aires. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Daverio, Maria Silvana. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Daverio, Maria Silvana. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Departamento de Ciencias Biológicas. Cátedra de Biología; ArgentinFil: Rodriguez, S.S. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Rodriguez, S.S. Provincia de Buenos Aires. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Rodriguez, S.S. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Romero, Sandra Raquel. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto De Investigación y Desarrollo Tecnológico para la Agricultura Familiar Región NOA; ArgentinaFil: Renieri, Carlo. University of Camerino. School of Pharmacy; ItaliaFil: Vidal Rioja, Lidia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Vidal Rioja, Lidia. Provincia de Buenos Aires. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Vidal Rioja, Lidia. 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; ArgentinaFil: Di Rocco, Florencia. Provincia de Buenos Aires. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Di Rocco, Florencia. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaElsevierinfo:eu-repo/date/embargoEnd/2022-10-192021-10-19T12:42:34Z2021-10-19T12:42:34Z2021-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfhttp://hdl.handle.net/20.500.12123/10524https://www.sciencedirect.com/science/article/abs/pii/S03781119210061320378-1119https://doi.org/10.1016/j.gene.2021.146018Gene : 146018 (Available online 14 October 2021)reponame:INTA Digital (INTA)instname:Instituto Nacional de Tecnología Agropecuariaenginfo:eu-repo/semantics/restrictedAccess2025-09-29T13:45:22Zoai:localhost:20.500.12123/10524instacron:INTAInstitucionalhttp://repositorio.inta.gob.ar/Organismo científico-tecnológicoNo correspondehttp://repositorio.inta.gob.ar/oai/requesttripaldi.nicolas@inta.gob.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:l2025-09-29 13:45:22.801INTA Digital (INTA) - Instituto Nacional de Tecnología Agropecuariafalse
dc.title.none.fl_str_mv The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes
title The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes
spellingShingle The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes
Anello, Melina
Llama
Fenotipos
Genética
Expresión Génica
Llamas
Phenotypes
Genetics
Gene Expression
Agouti Gene
ASIP Gene
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 The ASIP gene in the Llama (Lama glama) : alternative transcripts, expression and relation with color phenotypes
dc.creator.none.fl_str_mv Anello, Melina
Daverio, Maria Silvana
Rodriguez, S.S.
Romero, Sandra Raquel
Renieri, Carlo
Vidal Rioja, Lidia Beatriz
Di Rocco, Florencia
author Anello, Melina
author_facet Anello, Melina
Daverio, Maria Silvana
Rodriguez, S.S.
Romero, Sandra Raquel
Renieri, Carlo
Vidal Rioja, Lidia Beatriz
Di Rocco, Florencia
author_role author
author2 Daverio, Maria Silvana
Rodriguez, S.S.
Romero, Sandra Raquel
Renieri, Carlo
Vidal Rioja, Lidia Beatriz
Di Rocco, Florencia
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Llama
Fenotipos
Genética
Expresión Génica
Llamas
Phenotypes
Genetics
Gene Expression
Agouti Gene
ASIP Gene
topic Llama
Fenotipos
Genética
Expresión Génica
Llamas
Phenotypes
Genetics
Gene Expression
Agouti Gene
ASIP Gene
dc.description.none.fl_txt_mv 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
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.
publishDate 2021
dc.date.none.fl_str_mv 2021-10-19T12:42:34Z
2021-10-19T12:42:34Z
2021-10
info:eu-repo/date/embargoEnd/2022-10-19
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv 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
url 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
identifier_str_mv 0378-1119
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.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv Gene : 146018 (Available online 14 October 2021)
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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