A missense mutation in <i>TYRP1</i> causes the chocolate plumage color in chicken and alters melanosome structure

Li, Jingyi; Bed’Hom, Bertrand; Marthey, Sylvain; Valade, Mathieu; Dureux, Audrey; Moroldo, Marco; Péchoux, Christine; Coville, Jean‐Luc; Gourichon, David; Vieaud, Agathe; Dorshorst, Ben; Andersson, Leif; Tixier‐Boichard, Michèle

doi:10.1111/pcmr.12753

Cited by 34 publications

(31 citation statements)

References 49 publications

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“…TYRP1 , the first pigment gene cloned in the tyrosinase gene family, encodes tyrosinase-related protein 1, a putative membrane-bound, copper-containing enzyme that plays a key role in the last step of eumelanin synthesis 46 , 51 . Previous studies have demonstrated strong correlations between changes in TYRP1 function and the pheomelanin-based coat colour of Japanese quail 28 , chickens 52 , cats 46 , rabbits 53 , and cattle 54 . Low expression levels of TYRP1 were associated with a pheomelanin-based coat colour.…”

Section: Discussionmentioning

confidence: 98%

Transcriptome analysis of feather follicles reveals candidate genes and pathways associated with pheomelanin pigmentation in chickens

Zheng

Zhang

et al. 2020

Sci Rep

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Yellow plumage is common in chickens, especially in breeds such as the Huiyang Bearded chicken, which is indigenous to China. We evaluated plumage colour distribution in F1, F2, and F3 populations of an Huiyang Bearded chicken × White Leghorn chicken cross, the heredity of the yellow plumage trait was distinguished from that of the gold plumage and other known plumage colours. Microscopic analysis of the feather follicles indicated that pheomelanin particles were formed in yellow but not in white feathers. to screen genes related to formation of the pheomelanin particles, we generated transcriptome data from yellow and white feather follicles from 7-and 11-week-old F3 chickens using RNA-seq. We identified 27 differentially expressed genes (DEGs) when comparing the yellow and white feather follicles. These DEGs were enriched in the Gene Ontology classes 'melanosome' and 'melanosome organization' related to the pigmentation process. Down-regulation of TYRP1, DCT, PMEL, MLANA, and HPGDS, verified using quantitative reverse transcription PCR, may lead to reduced eumelanin and increased pheomelanin synthesis in yellow plumage. owing to the presence of the Dominant white locus, both white and yellow plumage lack eumelanin, and white feathers showed no pigments. our results provide an understanding of yellow plumage formation in chickens. Plumage colour in birds, coat colour in mammals, and skin colour in humans have long been the focus of pigment research. Among these, birds display the most fascinating and complex colouration, which has been shown to be caused by melanin (eumelanin and pheomelanin), carotenoids, porphyrins, polyenes and structural colours 1,2. In general, the formation of different plumage colours in chickens is mainly attributed to variations in the quantity, proportion and location of eumelanin and pheomelanin in the feather 3. Eumelanin makes plumage appear black and dark brown, whereas pheomelanin makes it appear red and yellow 4. Both eumelanin and pheomelanin are indole-polymers with tyrosine as a precursor 5. During eumelanin synthesis, tyrosinase (TYR) catalyses the hydroxylation of tyrosine to 3,4-dihydroxyphenylalanine (dopa) and the oxidation of dopa to dopaquinone, which is then oxidized to form eumelanin; this occurs via the TYR family, involving TYR, tyrosinase-related protein 1 (TYRP1), and dopachrome tautomerase (DCT). Dopaquinone is transformed into 5-S-cysteinyldopa when cysteine or glutathione provides sulfhydryl; it eventually forms pheomelanin 5. In recent decades, with the rapid development of sequencing technology, significant progress has been made in the study of functional genes related to plumage colour in chickens. Various plumage colour causal genes, such as the Dominant white gene (I), recessive white gene (c), Silver gene (S), molted gene (mo) and Sex-linked barring gene (B), have been cloned 6-11. Especially for Dominant white allele (I), a strong dilutor of eumelanin owing to an insertion in the transmembrane region of the premelanosome protein (PMEL), it has no effect...

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Section: Discussionmentioning

confidence: 98%

Transcriptome analysis of feather follicles reveals candidate genes and pathways associated with pheomelanin pigmentation in chickens

Zheng

Zhang

et al. 2020

Sci Rep

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“…This gene can affect plumage color in poultry. For example, the chocolate plumage color in chickens is associated with a missense mutation in TYRP1 [ 69 ]. In this study, we found that PMEL and TYRP1 are strongly selected in WHYC.…”

Section: Discussionmentioning

confidence: 99%

Genomic variations and signatures of selection in Wuhua yellow chicken

Weng

et al. 2020

PLoS ONE

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Wuhua yellow chicken (WHYC) is an important traditional yellow-feathered chicken from China, which is characterized by its white tail feathers, white flight feathers, and strong disease resistance. However, the genomic basis of these unique traits associated with WHYC is poorly understood. In this study, whole-genome resequencing was performed with an average coverage of 20.77-fold to investigate heritable variation and identify selection signals in WHYC. Reads were mapped onto the chicken reference genome (Galgal5) with a coverage of 85.95%. After quality control, 11,953,471 single nucleotide polymorphisms and 1,069,574 insertion/deletions were obtained. In addition, 41,408 structural variants and 33,278 copy number variants were found. Comparative genomic analysis of WHYC and other yellow-feathered chicken breeds showed that selected regions were enriched in genes involved in transport and catabolism, immune system, infectious diseases, signal transduction, and signaling molecules and interactions. Several genes associated with disease resistance were also identified, including IFNA , IFNB , CD86 , IL18 , IL11RA , VEGFC , and ATG10 . Furthermore, our results suggest that PMEL and TYRP1 may contribute to the white feather coloring in WHYC. These findings can improve our understanding of the genetic characteristics of WHYC and may contribute to future breed improvement.

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“…We investigated the TYRP1 gene as a possible contributor to various shades of brown coat color in the dromedary. The gene encodes for an important enzyme for the synthesis of eumelanin (del Marmol and Beermann, 1996) and TYRP1 mutations are associated with brown or chocolate coat color on black genetic background in many mammals and other vertebrates (see Li et al, 2018). However, all TYRP1 variants found in this study, were in non-coding regions (Table 4) and we did not detect the two SNPs in dromedary TYRP1 exon1 as reported by a prior study (see Almathen et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

Comparative FISH-Mapping of MC1R, ASIP, and TYRP1 in New and Old World Camelids and Association Analysis With Coat Color Phenotypes in the Dromedary (Camelus dromedarius)

et al. 2019

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Melanocortin 1 receptor ( MC1R ), the agouti signaling protein ( ASIP ), and tyrosinase related protein 1 ( TYRP1 ) are among the major regulators of pigmentation in mammals. Recently, MC1R and ASIP sequence variants were associated with white and black/dark brown coat colors, respectively, in the dromedary. Here we confirmed this association by independent sequencing and mutation discovery of MC1R and ASIP coding regions and by TaqMan genotyping in 188 dromedaries from Saudi Arabia and United States, including 38 black, 53 white, and 97 beige/brown/red animals. We showed that heterozygosity for a missense mutation c.901C > T in MC1R is sufficient for the white coat color suggesting a possible dominant negative effect. Likewise, we confirmed that the majority of black dromedaries were homozygous for a frameshift mutation in ASIP exon 2, except for 4 animals, which were heterozygous. In search for additional mutations underlying the black color, we identified another frameshift mutation in ASIP exon 4 and 6 new variants in MC1R including a significantly associated SNP in 3′UTR. In pursuit of sequence variants that may modify dromedary wild-type color from dark-reddish brown to light beige, we identified 4 SNPs and one insertion in TYRP1 non-coding regions. However, none of these were associated with variations in wild-type colors. Finally, the three genes were cytogenetically mapped in New World (alpaca) and Old World (dromedary and Bactrian camel) camelids. The MC1R was assigned to chr21, ASIP to chr19 and TYRP1 to chr4 in all 3 species confirming extensive conservation of camelid karyotypes. Notably, while the locations of ASIP and TYRP1 were in agreement with human-camelid comparative map, mapping MC1R identified a new evolutionary conserved synteny segment between camelid chromosome 21 and HSA16. The findings contribute to coat color genomics and the development of molecular tests in camelids and toward the chromosome level reference assemblies of camelid genomes.

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A missense mutation in TYRP1 causes the chocolate plumage color in chicken and alters melanosome structure

Cited by 34 publications

References 49 publications

Transcriptome analysis of feather follicles reveals candidate genes and pathways associated with pheomelanin pigmentation in chickens

Transcriptome analysis of feather follicles reveals candidate genes and pathways associated with pheomelanin pigmentation in chickens

Genomic variations and signatures of selection in Wuhua yellow chicken

Comparative FISH-Mapping of MC1R, ASIP, and TYRP1 in New and Old World Camelids and Association Analysis With Coat Color Phenotypes in the Dromedary (Camelus dromedarius)

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