TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes

Tyrosinase, encoded by TYR gene, is an enzyme that plays a major role in mammalian pigmentation. It catalyzes the oxidation of L-dihydroxy-phenylalanine (DOPA) to DOPA quinone, a precursor of both types of melanin: eumelanin and pheomelanin. TYR is commonly known as the albino locus since mutations...

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Detalhes bibliográficos
Autores: Anello, Melina, Fernández, Estefanía, Daverio, Maria Silvana, Vidal Rioja, Lidia, Di Rocco, Florencia
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2019
País:Argentina
Recursos:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/127767
Acesso em linha:http://hdl.handle.net/11336/127767
Access Level:acceso abierto
Palavra-chave:TYROSINASE
COAT COLOR
DILUTION
LAMA GLAMA
POLYMORPHISM
EXPRESSION
https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
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network_acronym_str AR
network_name_str Argentina
repository_id_str
dc.title.none.fl_str_mv TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes
title TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes
spellingShingle TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes
Anello, Melina
TYROSINASE
COAT COLOR
DILUTION
LAMA GLAMA
POLYMORPHISM
EXPRESSION
POLYMORPHISM
https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
title_short TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes
title_full TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes
title_fullStr TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes
title_full_unstemmed TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes
title_sort TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes
dc.creator.none.fl_str_mv Anello, Melina
Fernández, Estefanía
Daverio, Maria Silvana
Vidal Rioja, Lidia
Di Rocco, Florencia
author Anello, Melina
author_facet Anello, Melina
Fernández, Estefanía
Daverio, Maria Silvana
Vidal Rioja, Lidia
Di Rocco, Florencia
author_role author
author2 Fernández, Estefanía
Daverio, Maria Silvana
Vidal Rioja, Lidia
Di Rocco, Florencia
author2_role author
author
author
author
dc.subject.none.fl_str_mv TYROSINASE
COAT COLOR
DILUTION
LAMA GLAMA
POLYMORPHISM
EXPRESSION
POLYMORPHISM
https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
topic TYROSINASE
COAT COLOR
DILUTION
LAMA GLAMA
POLYMORPHISM
EXPRESSION
POLYMORPHISM
https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
description Tyrosinase, encoded by TYR gene, is an enzyme that plays a major role in mammalian pigmentation. It catalyzes the oxidation of L-dihydroxy-phenylalanine (DOPA) to DOPA quinone, a precursor of both types of melanin: eumelanin and pheomelanin. TYR is commonly known as the albino locus since mutations in this gene result in albinism in several species. However, many other TYR mutations have been found to cause diluted phenotypes, like the Himalayan or chinchilla phenotypes in mice. The llama (Lama glama) presents a wide variety of coat colors ranging from non-diluted phenotypes (eumelanic and pheomelanic), through different degrees of dilution, to white. To investigate the possible contribution of TYR gene to coat color variation in llamas, we sequenced TYR exons and their flanking regions and genotyped animals with diluted, non-diluted, and white coat, including three blue-eyed white individuals. Moreover, we analyzed mRNA expression levels in skin biopsies by qPCR. TYR coding region presented nine SNPs, of which three were non-synonymous, c.428A > G, c.859G > T, and c.1490G > T. We also identified seven polymorphisms in non-coding regions, including two microsatellites, an homopolymeric repeat, and five SNPs: one in the promoter region (c.1-26C > T), two in the 3′-UTR, and two flanking the exons. Although no complete association was found between coat color and SNPs, c.1-26C > T was partially associated to diluted phenotypes. Additionally, the frequency of the G allele from c.428A > G was significantly higher in white compared to non-diluted. Results from qPCR showed that expression levels of TYR in white llamas were significantly lower (p < 0.05) than those in diluted and non-diluted phenotypes. Screening for variation in regulatory regions of TYR did not reveal polymorphisms that explain such differences. However, data from this study showed that TYR expression levels play a role in llama pigmentation.
publishDate 2019
dc.date.none.fl_str_mv 2019-06
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/127767
Anello, Melina; Fernández, Estefanía; Daverio, Maria Silvana; Vidal Rioja, Lidia; Di Rocco, Florencia; TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes; Frontiers; Frontiers in Genetics; 10; 568; 6-2019; 1-9
1664-8021
CONICET Digital
CONICET
url http://hdl.handle.net/11336/127767
identifier_str_mv Anello, Melina; Fernández, Estefanía; Daverio, Maria Silvana; Vidal Rioja, Lidia; Di Rocco, Florencia; TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes; Frontiers; Frontiers in Genetics; 10; 568; 6-2019; 1-9
1664-8021
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/article/10.3389/fgene.2019.00568/full
info:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fgene.2019.00568/full
info:eu-repo/semantics/altIdentifier/doi/10.3389/fgene.2019.00568
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Frontiers
publisher.none.fl_str_mv Frontiers
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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spelling TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color PhenotypesAnello, MelinaFernández, EstefaníaDaverio, Maria SilvanaVidal Rioja, LidiaDi Rocco, FlorenciaTYROSINASECOAT COLORDILUTIONLAMA GLAMAPOLYMORPHISMEXPRESSIONPOLYMORPHISMhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Tyrosinase, encoded by TYR gene, is an enzyme that plays a major role in mammalian pigmentation. It catalyzes the oxidation of L-dihydroxy-phenylalanine (DOPA) to DOPA quinone, a precursor of both types of melanin: eumelanin and pheomelanin. TYR is commonly known as the albino locus since mutations in this gene result in albinism in several species. However, many other TYR mutations have been found to cause diluted phenotypes, like the Himalayan or chinchilla phenotypes in mice. The llama (Lama glama) presents a wide variety of coat colors ranging from non-diluted phenotypes (eumelanic and pheomelanic), through different degrees of dilution, to white. To investigate the possible contribution of TYR gene to coat color variation in llamas, we sequenced TYR exons and their flanking regions and genotyped animals with diluted, non-diluted, and white coat, including three blue-eyed white individuals. Moreover, we analyzed mRNA expression levels in skin biopsies by qPCR. TYR coding region presented nine SNPs, of which three were non-synonymous, c.428A > G, c.859G > T, and c.1490G > T. We also identified seven polymorphisms in non-coding regions, including two microsatellites, an homopolymeric repeat, and five SNPs: one in the promoter region (c.1-26C > T), two in the 3′-UTR, and two flanking the exons. Although no complete association was found between coat color and SNPs, c.1-26C > T was partially associated to diluted phenotypes. Additionally, the frequency of the G allele from c.428A > G was significantly higher in white compared to non-diluted. Results from qPCR showed that expression levels of TYR in white llamas were significantly lower (p < 0.05) than those in diluted and non-diluted phenotypes. Screening for variation in regulatory regions of TYR did not reveal polymorphisms that explain such differences. However, data from this study showed that TYR expression levels play a role in llama pigmentation.Fil: Anello, Melina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Fernández, Estefanía. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. 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. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Vidal Rioja, Lidia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. 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. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFrontiers2019-06info: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/11336/127767Anello, Melina; Fernández, Estefanía; Daverio, Maria Silvana; Vidal Rioja, Lidia; Di Rocco, Florencia; TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes; Frontiers; Frontiers in Genetics; 10; 568; 6-2019; 1-91664-8021CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/article/10.3389/fgene.2019.00568/fullinfo:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fgene.2019.00568/fullinfo:eu-repo/semantics/altIdentifier/doi/10.3389/fgene.2019.00568info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2024-05-08T13:56:31Zoai:ri.conicet.gov.ar:11336/127767instacron: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:34982024-05-08 13:56:31.379CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
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