Identification of polymorphisms in MITF and DCT genes and their associations with plumage colors in Asian duck breeds

Abstract

ObjectiveThe aim of this study was to investigate the effect of single nucleotide polymorphisms (SNPs) of the melanogenesis associated transcription factor (MITF) and dopachrome tautomerase (DCT) genes on plumage coloration in Asian native duck breeds. MITF encodes a protein for microphthalmia-associated transcription factor, which regulates the development and function of melanocytes for pigmentation of skin, hair, and eyes. Among the tyrosinase-related family genes, DCT is a pigment cell-specific gene that plays important roles in the melanin synthesis pathway and the expression of skin, feather, and retina color.MethodsFive Asian duck varieties (black Korean native, white Korean native, commercial Peking, Nageswari, and Bangladeshi Deshi white ducks) were investigated to examine the polymorphisms associated with plumage colors. Among previously identified SNPs, three synonymous SNPs and one indel of MITF and nine SNPs in exon regions of DCT were genotyped. The allele frequencies for SNPs of the black and white plumage color populations were estimated and Fisher’s exact test was conducted to assess the association between the allele frequencies of these two populations.ResultsTwo synonymous SNPs (c.114T>G and c.147T>C) and a 14-bp indel (GCTGCAAAC AGATG) in intron 7 of MITF were significantly associated with the black- and white-colored breeds (p<0.001). One non-synonymous SNP [c.938A>G (p.His313Arg)] in DCT, was highly significantly associated (p<0.001) and a synonymous SNP (c.753A>G) was significantly associated (p<0.05) with black and white color plumage in the studied duck populations.ConclusionThe results of this study provide a basis for further investigations of the associations between polymorphisms and plumage color phenotypes in Asian duck breeds.

Effects of melanocortin 1 receptor (MC1R) gene polymorphisms on plumage color in mule ducks

“…The specific association of SNP involved in the melanogenesis pathway and plumage color in different breeds of common ducks has been reported (Rahayu et al, 2015;Sultana et al, 2018). However, to the best of our knowledge, the present study is the first to demonstrate that the intergeneric maternal SNP of MC1R gene are associated with the plumage color of their offspring.…”

“…Over the past decade, traditional selection of maternal lines of mule duck, including Tsaiya and Pekin ducks, have successfully improved mule ducks whose white plumage is generally accepted by consumers in Taiwan. Many studies have demonstrated the polymorphisms of genes involved in the melanogenesis pathway associated with plumage coloration between avian species (Hoque et al, 2013;Zhang et al, 2015;Ran et al, 2016;Sultana et al, 2017;Sultana et al, 2018). However, little is known about the relationship between gene polymorphism and plumage coloration in intergeneric hybrids.…”

“…It has been demonstrated that the several polymorphisms of genes involved in the melanocortin 1 receptor-mediated melanogenesis pathway, such as melanogenesis-associated transcription factor and dopachrome tautomerase (DCT), have an influence on plumage color in Asian duck breeds (Sultana et al, 2018). However, the single nucleotide polymorphism (SNP) variations of TYP gene (tyrosinase), a rate-limiting enzyme in the production of melanin pigment, are not associated with plumage color in Cherry Valley and Liancheng white hybrid ducks (Zhang et al, 2015).…”

“…It has been reported that exon 1 of MC1R gene contributes to plumage coloration in Magelang ducks (Rahayu et al, 2015). Previous studies all focused on the effect of polymorphisms of gene involved in melanogenesis pathway on plumage color in different breeds of common ducks (Anas platyrhynchos) (Zhang et al, 2015;Rahayu et al, 2015;Sultana et al, 2018). However, the potential association between the MC1R gene and plumage color phenotypes in intergeneric hybrids, such as mule ducks, has not been validated.…”

The Long Noncoding RNA UCA1 Negatively Regulates Melanogenesis in Melanocytes

“…Melanogenesis is regulated by a series of transcription factors, among which microphthalmia-associated transcription factor (MITF) plays an important role (Chen et al, 2018b;Ishii et al, 2017). MITF promotes melanogenesis by inducing melanogenesis-related genes, such as TYR, TYRP1, TYRP2, and RAB27A (Alves et al, 2017;Sultana et al, 2018). Studies have shown that the phosphorylation state of the transcription factor CRE-binding protein (CREB) promotes the expression of MITF by binding to and activating the promoter of MITF, thereby promoting the activation of MC function (Alam et al, 2018;Shin et al, 2018).…”