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A retroviral insertion in the tyrosinase (TYR) gene is associated with the recessive white plumage color in the Yeonsan Ogye chicken.

ABSTRACT: The recessive white (locus c) phenotype observed in chickens is associated with three alleles (recessive white c, albino c^a , and red-eyed white c^re ) and causative mutations in the tyrosinase (TYR) gene. The recessive white mutation (c) inhibits the transcription of TYR exon 5 due to a retroviral sequence insertion in intron 4. In this study, we genotyped and sequenced the insertion in TYR intron 4 to identify the mutation causing the unusual white plumage of Yeonsan Ogye chickens, which normally have black plumage. The white chickens had a homozygous recessive white genotype that matched the sequence of the recessive white type, and the inserted sequence exhibited 98% identity with the avian leukosis virus ev-1 sequence. In comparison, brindle and normal chickens had the homozygous color genotype, and their sequences were the same as the wild-type sequence, indicating that this phenotype is derived from other mutation(s). In conclusion, white chickens have a recessive white mutation allele. Since the size of the sample used in this study was limited, further research through securing additional samples to perform validation studies is necessary. Therefore, after validation studies, a selection system for conserving the phenotypic characteristics and genetic diversity of the population could be established if additional studies to elucidate specific phenotype-related genes in Yeonsan Ogye are performed.

SUBMITTER: Cho E

PROVIDER: S-EPMC8367395 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature

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A retroviral insertion in the tyrosinase (TYR) gene is associated with the recessive white plumage color in the Yeonsan Ogye chicken.

Cho Eunjin E Kim Minjun M Manjula Prabuddha P Cho Sung Hyun SH Seo Dongwon D Lee Seung-Sook SS Lee Jun Heon JH

Journal of animal science and technology 20210731 4

The recessive white (locus c) phenotype observed in chickens is associated with three alleles (recessive white c, albino ca , and red-eyed white cre ) and causative mutations in the tyrosinase (TYR) gene. The recessive white mutation (c) inhibits the transcription of TYR exon 5 due to a retroviral sequence insertion in intron 4. In this study, we genotyped and sequenced the insertion in TYR intron 4 to identify the mut ...[more]

PMID: 34447952

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Project description:Two basic plumage color patterns are observed in adult geese: solid grey (G) or colorless white (W). However, a Chinese indigenous breed, the Wugangtong goose (WGT), continues to be subject to selective breeding efforts as it displays segregation of plumage colors, including G, W, and a novel color pattern designated Wb (G with white breast circles). The underlying genetic mechanisms responsible for the Wb phenotype are yet to be determined. The current study employed the population differentiation index (FST) to analyze 90 geese exhibiting diverse plumage colors, identifying the fifth intron of EDNRB2 as a particularly noteworthy region with the highest FST values. Sanger sequencing of the region surrounding the EDNRB2 gene identified a 14-bp insertion within exon 3 as the causal mutation. The heterozygosity of this 14-bp insertion and wild-type alleles was completely associated with the Wb phenotype, thereby substantiating the codominant nature of the G and W phenotypes. An inter-species corroborated this finding cross between the graylag (no 14-bp insertion) and the swan goose (homozygous for the 14-bp insertion) breeds, as hybrids from this cross exhibited the Wb phenotype. Transcriptomes from white breast patches and gray dorsal skins of 4 Wb geese were compared. A significant downregulation of genes involved in melanin synthesis and melanocyte development was observed, including EDRNB2 and MLANA. The downregulation of MLANA indicated that the mutated EDNRB2 resulted in melanocyte loss in specific body regions, as MLANA is a marker gene for melanocytes. The findings were corroborated by melanin staining using the Mansson-Fontana method, which revealed no melanin particles deposited in the white breast patches. In summary, the gray plumage color was codominant to the white color in WGT geese, and plumage color variations were controlled by EDNRB2. The findings of our study offer valuable and practical guidance for the purification of plumage colors among WGT, whether through traditional phenotype selection or molecular breeding methods.

Dataset Information

A retroviral insertion in the tyrosinase (TYR) gene is associated with the recessive white plumage color in the Yeonsan Ogye chicken.

Publications

A retroviral insertion in the tyrosinase (<i>TYR</i>) gene is associated with the recessive white plumage color in the Yeonsan Ogye chicken.

Similar Datasets

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