Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10316/105360 https://doi.org/10.1371/journal.pgen.1009404 |
Resumo: | Birds exhibit striking variation in eye color that arises from interactions between specialized pigment cells named chromatophores. The types of chromatophores present in the avian iris are lacking from the integument of birds or mammals, but are remarkably similar to those found in the skin of ectothermic vertebrates. To investigate molecular mechanisms associated with eye coloration in birds, we took advantage of a Mendelian mutation found in domestic pigeons that alters the deposition of yellow pterin pigments in the iris. Using a combination of genome-wide association analysis and linkage information in pedigrees, we mapped variation in eye coloration in pigeons to a small genomic region of ~8.5kb. This interval contained a single gene, SLC2A11B, which has been previously implicated in skin pigmentation and chromatophore differentiation in fish. Loss of yellow pigmentation is likely caused by a point mutation that introduces a premature STOP codon and leads to lower expression of SLC2A11B through nonsense-mediated mRNA decay. There were no substantial changes in overall gene expression profiles between both iris types as well as in genes directly associated with pterin metabolism and/or chromatophore differentiation. Our findings demonstrate that SLC2A11B is required for the expression of pterin-based pigmentation in the avian iris. They further highlight common molecular mechanisms underlying the production of coloration in the iris of birds and skin of ectothermic vertebrates. |
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7160 |
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Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebratesAnimalsChromatophoresColumbidaeEye ColorGene Expression ProfilingGenome-Wide Association StudyGenomicsGlucose Transport Proteins, FacilitativeIrisMutationPigmentationRNA StabilitySkin PigmentationVertebratesWhole Genome SequencingBirds exhibit striking variation in eye color that arises from interactions between specialized pigment cells named chromatophores. The types of chromatophores present in the avian iris are lacking from the integument of birds or mammals, but are remarkably similar to those found in the skin of ectothermic vertebrates. To investigate molecular mechanisms associated with eye coloration in birds, we took advantage of a Mendelian mutation found in domestic pigeons that alters the deposition of yellow pterin pigments in the iris. Using a combination of genome-wide association analysis and linkage information in pedigrees, we mapped variation in eye coloration in pigeons to a small genomic region of ~8.5kb. This interval contained a single gene, SLC2A11B, which has been previously implicated in skin pigmentation and chromatophore differentiation in fish. Loss of yellow pigmentation is likely caused by a point mutation that introduces a premature STOP codon and leads to lower expression of SLC2A11B through nonsense-mediated mRNA decay. There were no substantial changes in overall gene expression profiles between both iris types as well as in genes directly associated with pterin metabolism and/or chromatophore differentiation. Our findings demonstrate that SLC2A11B is required for the expression of pterin-based pigmentation in the avian iris. They further highlight common molecular mechanisms underlying the production of coloration in the iris of birds and skin of ectothermic vertebrates.Public Library of Science2021-02info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/105360http://hdl.handle.net/10316/105360https://doi.org/10.1371/journal.pgen.1009404eng1553-7404Andrade, PedroGazda, Małgorzata AAraújo, Pedro M.Afonso, SandraRasmussen, Jacob A.Marques, Cristiana I.Lopes, Ricardo J.Gilbert, M Thomas P.Carneiro, Miguelinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-02-20T11:00:18Zoai:estudogeral.uc.pt:10316/105360Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:21:57.049955Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates |
title |
Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates |
spellingShingle |
Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates Andrade, Pedro Animals Chromatophores Columbidae Eye Color Gene Expression Profiling Genome-Wide Association Study Genomics Glucose Transport Proteins, Facilitative Iris Mutation Pigmentation RNA Stability Skin Pigmentation Vertebrates Whole Genome Sequencing |
title_short |
Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates |
title_full |
Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates |
title_fullStr |
Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates |
title_full_unstemmed |
Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates |
title_sort |
Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates |
author |
Andrade, Pedro |
author_facet |
Andrade, Pedro Gazda, Małgorzata A Araújo, Pedro M. Afonso, Sandra Rasmussen, Jacob A. Marques, Cristiana I. Lopes, Ricardo J. Gilbert, M Thomas P. Carneiro, Miguel |
author_role |
author |
author2 |
Gazda, Małgorzata A Araújo, Pedro M. Afonso, Sandra Rasmussen, Jacob A. Marques, Cristiana I. Lopes, Ricardo J. Gilbert, M Thomas P. Carneiro, Miguel |
author2_role |
author author author author author author author author |
dc.contributor.author.fl_str_mv |
Andrade, Pedro Gazda, Małgorzata A Araújo, Pedro M. Afonso, Sandra Rasmussen, Jacob A. Marques, Cristiana I. Lopes, Ricardo J. Gilbert, M Thomas P. Carneiro, Miguel |
dc.subject.por.fl_str_mv |
Animals Chromatophores Columbidae Eye Color Gene Expression Profiling Genome-Wide Association Study Genomics Glucose Transport Proteins, Facilitative Iris Mutation Pigmentation RNA Stability Skin Pigmentation Vertebrates Whole Genome Sequencing |
topic |
Animals Chromatophores Columbidae Eye Color Gene Expression Profiling Genome-Wide Association Study Genomics Glucose Transport Proteins, Facilitative Iris Mutation Pigmentation RNA Stability Skin Pigmentation Vertebrates Whole Genome Sequencing |
description |
Birds exhibit striking variation in eye color that arises from interactions between specialized pigment cells named chromatophores. The types of chromatophores present in the avian iris are lacking from the integument of birds or mammals, but are remarkably similar to those found in the skin of ectothermic vertebrates. To investigate molecular mechanisms associated with eye coloration in birds, we took advantage of a Mendelian mutation found in domestic pigeons that alters the deposition of yellow pterin pigments in the iris. Using a combination of genome-wide association analysis and linkage information in pedigrees, we mapped variation in eye coloration in pigeons to a small genomic region of ~8.5kb. This interval contained a single gene, SLC2A11B, which has been previously implicated in skin pigmentation and chromatophore differentiation in fish. Loss of yellow pigmentation is likely caused by a point mutation that introduces a premature STOP codon and leads to lower expression of SLC2A11B through nonsense-mediated mRNA decay. There were no substantial changes in overall gene expression profiles between both iris types as well as in genes directly associated with pterin metabolism and/or chromatophore differentiation. Our findings demonstrate that SLC2A11B is required for the expression of pterin-based pigmentation in the avian iris. They further highlight common molecular mechanisms underlying the production of coloration in the iris of birds and skin of ectothermic vertebrates. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-02 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10316/105360 http://hdl.handle.net/10316/105360 https://doi.org/10.1371/journal.pgen.1009404 |
url |
http://hdl.handle.net/10316/105360 https://doi.org/10.1371/journal.pgen.1009404 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
1553-7404 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
Public Library of Science |
publisher.none.fl_str_mv |
Public Library of Science |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799134109579083776 |