Implications of the admixture process in skin color molecular assessment
- Autores
- Silva de Cerqueira, Caio Cesar; Hünemeier, Tábita; Gomez Valdés, Jorge; Ramallo, Virginia; Volasko Krause, Carla Daiana; Leal Barbosa, Ana Angélica; Vargas Pinilla, Pedro; Ciconet Dornelles, Rodrigo; Longo, Danaê; Rothhammer, Francisco; Bedoya Berrío, Gabriel; Canizales Quinteros,Samuel; Acuña Alonzo, Victor; Gallo, Carla; Poletti, Giovann; González José, Rolando; Salzano, Francisco Mauro; Callegari Jacques, Sídia Maria; Schuler Faccini, Lavínia; Ruiz Linares, Andrés; Bortolini, Maria Catira
- Año de publicación
- 2014
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- The understanding of the complex genotype-phenotype architecture of human pigmentation has clear implications for the evolutionary history of humans, as well as for medical and forensic practices. Although dozens of genes have previously been associated with human skin color, knowledge about this trait remains incomplete. In particular, studies focusing on populations outside the European-North American axis are rare, and, until now, admixed populations have seldom been considered. The present study was designed to help fill this gap. Our objective was to evaluate possible associations of 18 single nucleotide polymorphisms (SNPs), located within nine genes, and one pseudogene with the Melanin Index (MI) in two admixed Brazilian populations (Gaucho, N = 352; Baiano, N = 148) with different histories of geographic and ethnic colonization. Of the total sample, four markers were found to be significantly associated with skin color, but only two (SLC24A5 rs1426654, and SLC45A2 rs16891982) were consistently associated with MI in both samples (Gaucho and Baiano). Therefore, only these 2 SNPs should be preliminarily considered to have forensic significance because they consistently showed the association independently of the admixture level of the populations studied. We do not discard that the other two markers (HERC2 rs1129038 and TYR rs1126809) might be also relevant to admixed samples, but additional studies are necessary to confirm the real importance of these markers for skin pigmentation. Finally, our study shows associations of some SNPs with MI in a modern Brazilian admixed sample, with possible applications in forensic genetics. Some classical genetic markers in Euro-North American populations are not associated with MI in our sample. Our results point out the relevance of considering population differences in selecting an appropriate set of SNPs as phenotype predictors in forensic practice.
Fil: Silva de Cerqueira, Caio Cesar. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Hünemeier, Tábita. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Gomez Valdés, Jorge. Universidad Nacional Autónoma de México; México
Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Volasko Krause, Carla Daiana. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Leal Barbosa, Ana Angélica. Universidade Estadual Do Sudoeste Da Bahia; Brasil
Fil: Vargas Pinilla, Pedro. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Ciconet Dornelles, Rodrigo. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Longo, Danaê. Instituto Federal Farroupilha; Brasil
Fil: Rothhammer, Francisco. Universidad de Chile; Chile
Fil: Bedoya Berrío, Gabriel. Universidad de Antioquia; Colombia
Fil: Canizales Quinteros,Samuel. Universidad Nacional Autónoma de México; México
Fil: Acuña Alonzo, Victor. Escuela Nacional de Antropología e Historia; México
Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú
Fil: Poletti, Giovann. Universidad Peruana Cayetano Heredia; Perú
Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina
Fil: Salzano, Francisco Mauro. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Callegari Jacques, Sídia Maria. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Schuler Faccini, Lavínia. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Ruiz Linares, Andrés. Colegio Universitario de Londres; Reino Unido
Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil - Materia
-
SNPs
GENOTYPE-PHENOTYPE
HUMAN PIGMENTATION - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/81906
Ver los metadatos del registro completo
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Implications of the admixture process in skin color molecular assessmentSilva de Cerqueira, Caio CesarHünemeier, TábitaGomez Valdés, JorgeRamallo, VirginiaVolasko Krause, Carla DaianaLeal Barbosa, Ana AngélicaVargas Pinilla, PedroCiconet Dornelles, RodrigoLongo, DanaêRothhammer, FranciscoBedoya Berrío, GabrielCanizales Quinteros,SamuelAcuña Alonzo, VictorGallo, CarlaPoletti, GiovannGonzález José, RolandoSalzano, Francisco MauroCallegari Jacques, Sídia MariaSchuler Faccini, LavíniaRuiz Linares, AndrésBortolini, Maria CatiraSNPsGENOTYPE-PHENOTYPEHUMAN PIGMENTATIONhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1The understanding of the complex genotype-phenotype architecture of human pigmentation has clear implications for the evolutionary history of humans, as well as for medical and forensic practices. Although dozens of genes have previously been associated with human skin color, knowledge about this trait remains incomplete. In particular, studies focusing on populations outside the European-North American axis are rare, and, until now, admixed populations have seldom been considered. The present study was designed to help fill this gap. Our objective was to evaluate possible associations of 18 single nucleotide polymorphisms (SNPs), located within nine genes, and one pseudogene with the Melanin Index (MI) in two admixed Brazilian populations (Gaucho, N = 352; Baiano, N = 148) with different histories of geographic and ethnic colonization. Of the total sample, four markers were found to be significantly associated with skin color, but only two (SLC24A5 rs1426654, and SLC45A2 rs16891982) were consistently associated with MI in both samples (Gaucho and Baiano). Therefore, only these 2 SNPs should be preliminarily considered to have forensic significance because they consistently showed the association independently of the admixture level of the populations studied. We do not discard that the other two markers (HERC2 rs1129038 and TYR rs1126809) might be also relevant to admixed samples, but additional studies are necessary to confirm the real importance of these markers for skin pigmentation. Finally, our study shows associations of some SNPs with MI in a modern Brazilian admixed sample, with possible applications in forensic genetics. Some classical genetic markers in Euro-North American populations are not associated with MI in our sample. Our results point out the relevance of considering population differences in selecting an appropriate set of SNPs as phenotype predictors in forensic practice.Fil: Silva de Cerqueira, Caio Cesar. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Hünemeier, Tábita. Universidade Federal do Rio Grande do Sul; BrasilFil: Gomez Valdés, Jorge. Universidad Nacional Autónoma de México; MéxicoFil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina. Universidade Federal do Rio Grande do Sul; BrasilFil: Volasko Krause, Carla Daiana. Universidade Federal do Rio Grande do Sul; BrasilFil: Leal Barbosa, Ana Angélica. Universidade Estadual Do Sudoeste Da Bahia; BrasilFil: Vargas Pinilla, Pedro. Universidade Federal do Rio Grande do Sul; BrasilFil: Ciconet Dornelles, Rodrigo. Universidade Federal do Rio Grande do Sul; BrasilFil: Longo, Danaê. Instituto Federal Farroupilha; BrasilFil: Rothhammer, Francisco. Universidad de Chile; ChileFil: Bedoya Berrío, Gabriel. Universidad de Antioquia; ColombiaFil: Canizales Quinteros,Samuel. Universidad Nacional Autónoma de México; MéxicoFil: Acuña Alonzo, Victor. Escuela Nacional de Antropología e Historia; MéxicoFil: Gallo, Carla. Universidad Peruana Cayetano Heredia; PerúFil: Poletti, Giovann. Universidad Peruana Cayetano Heredia; PerúFil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; ArgentinaFil: Salzano, Francisco Mauro. Universidade Federal do Rio Grande do Sul; BrasilFil: Callegari Jacques, Sídia Maria. Universidade Federal do Rio Grande do Sul; BrasilFil: Schuler Faccini, Lavínia. Universidade Federal do Rio Grande do Sul; BrasilFil: Ruiz Linares, Andrés. Colegio Universitario de Londres; Reino UnidoFil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; BrasilPublic Library of Science2014-05-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/81906Silva de Cerqueira, Caio Cesar; Hünemeier, Tábita; Gomez Valdés, Jorge; Ramallo, Virginia; Volasko Krause, Carla Daiana; et al.; Implications of the admixture process in skin color molecular assessment; Public Library of Science; Plos One; 9; 5; 8-5-2014; 1-7; e1094511932-6203CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1371/journal.pone.0096886info:eu-repo/semantics/altIdentifier/url/https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0096886info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:53:20Zoai:ri.conicet.gov.ar:11336/81906instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 09:53:20.723CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
Implications of the admixture process in skin color molecular assessment |
| title |
Implications of the admixture process in skin color molecular assessment |
| spellingShingle |
Implications of the admixture process in skin color molecular assessment Silva de Cerqueira, Caio Cesar SNPs GENOTYPE-PHENOTYPE HUMAN PIGMENTATION |
| title_short |
Implications of the admixture process in skin color molecular assessment |
| title_full |
Implications of the admixture process in skin color molecular assessment |
| title_fullStr |
Implications of the admixture process in skin color molecular assessment |
| title_full_unstemmed |
Implications of the admixture process in skin color molecular assessment |
| title_sort |
Implications of the admixture process in skin color molecular assessment |
| dc.creator.none.fl_str_mv |
Silva de Cerqueira, Caio Cesar Hünemeier, Tábita Gomez Valdés, Jorge Ramallo, Virginia Volasko Krause, Carla Daiana Leal Barbosa, Ana Angélica Vargas Pinilla, Pedro Ciconet Dornelles, Rodrigo Longo, Danaê Rothhammer, Francisco Bedoya Berrío, Gabriel Canizales Quinteros,Samuel Acuña Alonzo, Victor Gallo, Carla Poletti, Giovann González José, Rolando Salzano, Francisco Mauro Callegari Jacques, Sídia Maria Schuler Faccini, Lavínia Ruiz Linares, Andrés Bortolini, Maria Catira |
| author |
Silva de Cerqueira, Caio Cesar |
| author_facet |
Silva de Cerqueira, Caio Cesar Hünemeier, Tábita Gomez Valdés, Jorge Ramallo, Virginia Volasko Krause, Carla Daiana Leal Barbosa, Ana Angélica Vargas Pinilla, Pedro Ciconet Dornelles, Rodrigo Longo, Danaê Rothhammer, Francisco Bedoya Berrío, Gabriel Canizales Quinteros,Samuel Acuña Alonzo, Victor Gallo, Carla Poletti, Giovann González José, Rolando Salzano, Francisco Mauro Callegari Jacques, Sídia Maria Schuler Faccini, Lavínia Ruiz Linares, Andrés Bortolini, Maria Catira |
| author_role |
author |
| author2 |
Hünemeier, Tábita Gomez Valdés, Jorge Ramallo, Virginia Volasko Krause, Carla Daiana Leal Barbosa, Ana Angélica Vargas Pinilla, Pedro Ciconet Dornelles, Rodrigo Longo, Danaê Rothhammer, Francisco Bedoya Berrío, Gabriel Canizales Quinteros,Samuel Acuña Alonzo, Victor Gallo, Carla Poletti, Giovann González José, Rolando Salzano, Francisco Mauro Callegari Jacques, Sídia Maria Schuler Faccini, Lavínia Ruiz Linares, Andrés Bortolini, Maria Catira |
| author2_role |
author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
SNPs GENOTYPE-PHENOTYPE HUMAN PIGMENTATION |
| topic |
SNPs GENOTYPE-PHENOTYPE HUMAN PIGMENTATION |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/1.6 https://purl.org/becyt/ford/1 |
| dc.description.none.fl_txt_mv |
The understanding of the complex genotype-phenotype architecture of human pigmentation has clear implications for the evolutionary history of humans, as well as for medical and forensic practices. Although dozens of genes have previously been associated with human skin color, knowledge about this trait remains incomplete. In particular, studies focusing on populations outside the European-North American axis are rare, and, until now, admixed populations have seldom been considered. The present study was designed to help fill this gap. Our objective was to evaluate possible associations of 18 single nucleotide polymorphisms (SNPs), located within nine genes, and one pseudogene with the Melanin Index (MI) in two admixed Brazilian populations (Gaucho, N = 352; Baiano, N = 148) with different histories of geographic and ethnic colonization. Of the total sample, four markers were found to be significantly associated with skin color, but only two (SLC24A5 rs1426654, and SLC45A2 rs16891982) were consistently associated with MI in both samples (Gaucho and Baiano). Therefore, only these 2 SNPs should be preliminarily considered to have forensic significance because they consistently showed the association independently of the admixture level of the populations studied. We do not discard that the other two markers (HERC2 rs1129038 and TYR rs1126809) might be also relevant to admixed samples, but additional studies are necessary to confirm the real importance of these markers for skin pigmentation. Finally, our study shows associations of some SNPs with MI in a modern Brazilian admixed sample, with possible applications in forensic genetics. Some classical genetic markers in Euro-North American populations are not associated with MI in our sample. Our results point out the relevance of considering population differences in selecting an appropriate set of SNPs as phenotype predictors in forensic practice. Fil: Silva de Cerqueira, Caio Cesar. Universidade Federal do Rio Grande do Sul; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Hünemeier, Tábita. Universidade Federal do Rio Grande do Sul; Brasil Fil: Gomez Valdés, Jorge. Universidad Nacional Autónoma de México; México Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina. Universidade Federal do Rio Grande do Sul; Brasil Fil: Volasko Krause, Carla Daiana. Universidade Federal do Rio Grande do Sul; Brasil Fil: Leal Barbosa, Ana Angélica. Universidade Estadual Do Sudoeste Da Bahia; Brasil Fil: Vargas Pinilla, Pedro. Universidade Federal do Rio Grande do Sul; Brasil Fil: Ciconet Dornelles, Rodrigo. Universidade Federal do Rio Grande do Sul; Brasil Fil: Longo, Danaê. Instituto Federal Farroupilha; Brasil Fil: Rothhammer, Francisco. Universidad de Chile; Chile Fil: Bedoya Berrío, Gabriel. Universidad de Antioquia; Colombia Fil: Canizales Quinteros,Samuel. Universidad Nacional Autónoma de México; México Fil: Acuña Alonzo, Victor. Escuela Nacional de Antropología e Historia; México Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú Fil: Poletti, Giovann. Universidad Peruana Cayetano Heredia; Perú Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: Salzano, Francisco Mauro. Universidade Federal do Rio Grande do Sul; Brasil Fil: Callegari Jacques, Sídia Maria. Universidade Federal do Rio Grande do Sul; Brasil Fil: Schuler Faccini, Lavínia. Universidade Federal do Rio Grande do Sul; Brasil Fil: Ruiz Linares, Andrés. Colegio Universitario de Londres; Reino Unido Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil |
| description |
The understanding of the complex genotype-phenotype architecture of human pigmentation has clear implications for the evolutionary history of humans, as well as for medical and forensic practices. Although dozens of genes have previously been associated with human skin color, knowledge about this trait remains incomplete. In particular, studies focusing on populations outside the European-North American axis are rare, and, until now, admixed populations have seldom been considered. The present study was designed to help fill this gap. Our objective was to evaluate possible associations of 18 single nucleotide polymorphisms (SNPs), located within nine genes, and one pseudogene with the Melanin Index (MI) in two admixed Brazilian populations (Gaucho, N = 352; Baiano, N = 148) with different histories of geographic and ethnic colonization. Of the total sample, four markers were found to be significantly associated with skin color, but only two (SLC24A5 rs1426654, and SLC45A2 rs16891982) were consistently associated with MI in both samples (Gaucho and Baiano). Therefore, only these 2 SNPs should be preliminarily considered to have forensic significance because they consistently showed the association independently of the admixture level of the populations studied. We do not discard that the other two markers (HERC2 rs1129038 and TYR rs1126809) might be also relevant to admixed samples, but additional studies are necessary to confirm the real importance of these markers for skin pigmentation. Finally, our study shows associations of some SNPs with MI in a modern Brazilian admixed sample, with possible applications in forensic genetics. Some classical genetic markers in Euro-North American populations are not associated with MI in our sample. Our results point out the relevance of considering population differences in selecting an appropriate set of SNPs as phenotype predictors in forensic practice. |
| publishDate |
2014 |
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2014-05-08 |
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info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
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http://hdl.handle.net/11336/81906 Silva de Cerqueira, Caio Cesar; Hünemeier, Tábita; Gomez Valdés, Jorge; Ramallo, Virginia; Volasko Krause, Carla Daiana; et al.; Implications of the admixture process in skin color molecular assessment; Public Library of Science; Plos One; 9; 5; 8-5-2014; 1-7; e109451 1932-6203 CONICET Digital CONICET |
| url |
http://hdl.handle.net/11336/81906 |
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Silva de Cerqueira, Caio Cesar; Hünemeier, Tábita; Gomez Valdés, Jorge; Ramallo, Virginia; Volasko Krause, Carla Daiana; et al.; Implications of the admixture process in skin color molecular assessment; Public Library of Science; Plos One; 9; 5; 8-5-2014; 1-7; e109451 1932-6203 CONICET Digital CONICET |
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