A “new” allele at the C pigment locus in the fowl

Brumbaugh, J. A.; Bargar, Thomas W.; Oetting, William S.

doi:10.1093/oxfordjournals.jhered.a109804

Cited by 19 publications

(3 citation statements)

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“…Genetic linkage mapping and nucleotide sequencing revealed that the responsible gene for the dominant white plumage is PMEL17 , which encodes a matrix protein of pre-melanosomes [9] . The other locus is an autosomal “recessive white” locus ( c ), which comprises recessive white ( c ), albino ( c a ), red-eyed white ( c re ), and wild-type ( C + ) alleles [8] , [10] . The former three allelic genes ( c , c a , and c re ) are associated with exclusively white plumage, whereas the wild type ( C + ) has pigmented plumage.…”

Section: Introductionmentioning

confidence: 99%

Endothelin Receptor B2 (EDNRB2) Is Responsible for the Tyrosinase-Independent Recessive White (mow) and Mottled (mo) Plumage Phenotypes in the Chicken

et al. 2014

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A mutation that confers white plumage with black eyes was identified in the Minohiki breed of Japanese native chicken (Gallus gallus domesticus). The white plumage, with a few partially pigmented feathers, was not associated with the tyrosinase gene, and displayed an autosomal recessive mode of inheritance against the pigmented phenotype. All F1 offspring derived from crosses with mottled chickens (mo/mo), which show characteristic pigmented feathers with white tips, had plumage with a mottled-like pattern. This result indicates that the white plumage mutation is a novel allele at the mo locus; we propose the gene symbol mow for this mutant allele. Furthermore, the F1 hybrid between the mow/mow chicken and the panda (s/s) mutant of Japanese quail (Coturnix japonica), whose causative gene is the endothelin receptor B2 (EDNRB2) gene, showed a mow/mow chicken-like plumage, suggesting the possibility that the mutations in parental species are alleles of the same gene, EDNRB2. Nucleotide sequencing of the entire coding region of EDNRB2 revealed a non-synonymous G1008T substitution, which causes Cys244Phe amino acid substitution in exon 5 (which is part of the extracellular loop between the putative fourth and fifth transmembrane domains of EDNRB2) in the mutant chicken. This Cys244Phe mutation was also present in individuals of four Japanese breeds with white plumage. We also identified a non-synonymous substitution leading to Arg332His substitution that was responsible for the mottled (mo/mo) plumage phenotype. These results suggest that the EDN3 (endothelin 3)–EDNRB2 signaling is essential for normal pigmentation in birds, and that the mutations of EDNRB2 may cause defective binding of the protein with endothelins, which interferes with melanocyte differentiation, proliferation, and migration.

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Section: Introductionmentioning

confidence: 99%

Endothelin Receptor B2 (EDNRB2) Is Responsible for the Tyrosinase-Independent Recessive White (mow) and Mottled (mo) Plumage Phenotypes in the Chicken

et al. 2014

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“…These mutations are the red-eye white ( C*RE ), the recessive white ( C*C ) and the autosomal albino ( C*A ) [ 3 ]. They all give a white plumage but differ by pigmentation of the eye varying from a grey color to a totally non-pigmented albino phenotype [ 4 , 5 ] (Figure 1 ). Furthermore, day-old chicks may exhibit a lightly pigmented down at hatch in homozygous carriers of the C*C mutation.…”

Section: Introductionmentioning

confidence: 99%

Complete association between a retroviral insertion in the tyrosinase gene and the recessive white mutation in chickens

et al. 2006

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Background: In chickens, three mutant alleles have been reported at the C locus, including the albino mutation, and the recessive white mutation, which is characterized by white plumage and pigmented eyes. The albino mutation was found to be a 6 bp deletion in the tyrosinase (TYR) gene. The present work describes an approach to identify the structural rearrangement in the TYR gene associated with the recessive white mutation.

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“…Animals Animals used for providing fertile eggs from which melanocyte cultures were established include 1) pigmented Light Brown Leghorns (e +) homozygous for the e + allele at the major plumage color locus (7); 2) tyrosinase-positive Albino (imperfect albinos-IA) homozygous andlor hemizygous for the sal allele at the sex-linked SilverIGold locus (16); and 3) two dopa-negative albinos, homozygous for two different alleles a t the c locus (8). In the latter group, birds homozygous for the ca allele (albinos-Al) have dopa-negative amelanotic melanocytes in both regenerating feather and ocular tissues, while birds homozygous for the c allele (recessive white-RW) have dopa-negative amelanotic melanocytes in their regenerating feathers and functionally pigmented melanocytes in their uveal tract (22).…”

Section: Methodsmentioning

confidence: 99%

Separation of pigmented and albino melanocytes and the concomitant evaluation of endogenous peroxide content using flow cytometry

1989

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Flow cytometry (FCM) has been used extensively to analyze various biological properties of the cell. In this report, we describe a method by which FCM was used to determine the light scattering profile of a mixed population of pigmented and non‐pigmented melanocytes, plus its subsequent use for the sorting and separation of the two cell types. In addition, the relative peroxide content in pigmented and non‐pigmented melanocytes was compared by flow cytometry. Cultured avian melanocytes from a pigmented control and from three genetically distinct albino sources were studied. FCM analysis of forward versus side light scatter within a mixed suspension of pigmented and amelanotic melanocytes distinguished two overlapping populations of cells. Sorting of these two populations demonstrated that the population exhibiting much side and minimal forward light scatter was primarily pigmented melanocytes, while conversely the population exhibiting less side and more forward scatter was principally non‐pigmented cells. These two melanocyte types also demonstrated differences in levels of endogenous peroxides. The intracellular content of peroxide in the two subpopulations of cells was measured utilizing the nonfluorescent compound, 2′,7′‐dichlorofluorescin diacetate (DCFH‐DA), which within the cell is oxidized by intracellular peroxides to a fluorescent dichlorofluorescein (DCF). Non‐pigmented albino melanocytes had the highest quantity of endogenous peroxides, while heavily pigmented cells had considerably less peroxide‐related fluorescence. The amount of this DCF fluorescence could be enhanced by increasing concentrations of DCF used in the assay. These flow cytometric methods are useful for isolating and culturing subpopulations of melanocytes expressing various pigment levels and to investigate the relationship between melanin and its precursors with hydrogen and lipid peroxides in melanocytes.

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A “new” allele at the C pigment locus in the fowl

Cited by 19 publications

References 0 publications

Endothelin Receptor B2 (EDNRB2) Is Responsible for the Tyrosinase-Independent Recessive White (mow) and Mottled (mo) Plumage Phenotypes in the Chicken

Endothelin Receptor B2 (EDNRB2) Is Responsible for the Tyrosinase-Independent Recessive White (mow) and Mottled (mo) Plumage Phenotypes in the Chicken

Complete association between a retroviral insertion in the tyrosinase gene and the recessive white mutation in chickens

Separation of pigmented and albino melanocytes and the concomitant evaluation of endogenous peroxide content using flow cytometry

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