Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates
| Autor: | Pedro Araújo, Pedro Andrade, Sandra Afonso, Cristiana I. Marques, Miguel Carneiro, Ricardo Lopes, Małgorzata Anna Gazda, M. Thomas P. Gilbert, Jacob Agerbo Rasmussen |
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| Rok vydání: | 2020 |
| Předmět: |
0106 biological sciences
Pigments Cancer Research RNA Stability Glucose Transport Proteins Facilitative Iris Gene Expression Skin Pigmentation QH426-470 medicine.disease_cause Bird Genomics 01 natural sciences Epithelium chemistry.chemical_compound Animal Cells Eye color Medicine and Health Sciences Pterin Materials Genetics (clinical) 0303 health sciences Mutation Eye Color Pigmentation Bird Genetics Eukaryota Nonsense Mutation Genomics medicine.anatomical_structure Vertebrates Physical Sciences Pigeons Cellular Types Anatomy Research Article Nonsense mutation Materials Science Biology 010603 evolutionary biology Birds 03 medical and health sciences medicine Genetics Animals Chromatophores Iris (anatomy) Columbidae Molecular Biology Gene Ecology Evolution Behavior and Systematics 030304 developmental biology Whole Genome Sequencing Point mutation Gene Expression Profiling Organisms Biology and Life Sciences Epithelial Cells Cell Biology Chromatophore Biological Tissue chemistry Evolutionary biology Animal Genomics Amniotes sense organs Zoology Animal Genetics Genome-Wide Association Study |
| Zdroj: | PLoS Genetics PLoS Genetics, Vol 17, Iss 2, p e1009404 (2021) Andrade, P, Gazda, M A, Araújo, P M, Afonso, S, Rasmussen, J A, Marques, C I, Lopes, R J, Gilbert., M T P & Carneiro, M 2021, ' Molecular parallelisms between pigmentation in the avian iris and the integument of ectothermic vertebrates ', PLOS Genetics, vol. 17, no. 2, 1009404 . https://doi.org/10.1371/journal.pgen.1009404 |
| ISSN: | 1553-7404 |
| DOI: | 10.1371/journal.pgen.1009404 |
| Popis: | 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. Author summary Eye color is an important component of ornamental diversity in birds, resulting from the interactions between pigments and scattering elements in specialized cells in the iris. These cells share many structural and chemical characteristics with pigment cells found in the dermis of fish, amphibians and reptiles. In this study, we took advantage of variation in eye color found in domestic pigeons, which can be either pigmented (wild-type, due to deposition of pterins) or unpigmented (pearl-eye). Using a combination of genomic and transcriptomic analyses, we show that the ability to express pterin pigmentation is explained by SLC2A11B, a gene that has been previously implicated in the differentiation of pigment cells in the skin of fish. Our results together with cellular and pigmentary observations support an evolutionary and developmental link between the iris of birds and the skin of ectotherms. |
| Databáze: | OpenAIRE |
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