Artículo
TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes
Anello, Melina
; Fernández, Estefanía
; Daverio, Maria Silvana
; Vidal Rioja, Lidia; Di Rocco, Florencia
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Fecha de publicación:
06/2019
Editorial:
Frontiers
Revista:
Frontiers in Genetics
e-ISSN:
1664-8021
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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.
Palabras clave:
TYROSINASE
,
COAT COLOR
,
DILUTION
,
LAMA GLAMA
,
POLYMORPHISM
,
EXPRESSION
,
POLYMORPHISM
Archivos asociados
Licencia
Identificadores
Colecciones
Articulos(IMBICE)
Articulos de INST.MULTIDISCIPL.DE BIOLOGIA CELULAR (I)
Articulos de INST.MULTIDISCIPL.DE BIOLOGIA CELULAR (I)
Citación
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
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