A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken

Vaez, Mohsen; Follett, Sarah A; Bed’Hom, Bertrand; Gourichon, David; Tixier‐Boichard, Michèle; Burke, Terry

doi:10.1186/1471-2156-9-7

Cited by 63 publications

(67 citation statements)

References 33 publications

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“…These findings suggest that the gray skin and gray comb phenotype is controlled by the FM mutation in Anyi tile-like gray chickens, and that gray skin in Anyi tile-like gray chicken is derived from the black-skin (FM) phenotype. Vaez et al (2008) used a candidate-gene approach to demonstrate that a mutation (c.103c>t) in the MLPH gene leads to the development of the lavender plumage color phenotype in chicken (Vaez et al, 2008). Despite the phenotypic similarity between the lavender plumage color and the gray feather color, we did not detect the LAV allele in any of the animals sampled in this study.…”

Section: Association Of the Snp With Anyi Tile-like Gray Phenotypesmentioning

confidence: 48%

“…The formation of coloration phenotypes in animals involves melanocyte development, pigment production, and pigment distribution, and a defect in any of these processes can change the pigmentation phenotype of the animal (Cieslak et al, 2011). Studies in chicken and quail showed that the lavender plumage color dilution phenotype was caused by a mutation in the MLPH gene (Vaez et al, 2008;Bed'hom et al, 2012), and that the protein complexes encoded by MLPH, RAB27A, and MYO5A were required for melanosome transport. In fact, mutations in MLPH, RAB27A, and MYO5A can all lead to the dilution phenotype in animals (Matesic et al, 2001;Ménasché et al, 2003;Philipp et al, 2005;Ishida et al, 2006;Bed'hom et al, 2012;Cirera et al, 2013;Fontanesi et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

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Interactions of allele E of the MC1R gene with FM and mutations in the MLPH gene cause the five-gray phenotype in the Anyi tile-like gray chicken

Xu¹,

Xie²,

Zou³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. The Anyi tile-like gray chicken is a Chinese indigenous breed with a gray dilution phenotype, having gray feathers, comb, skin, shanks, and beak, which is valuable for genetic research on pigmentation. However, the genetic basis of the gray dilution phenotype remains unknown. The objective of this study was to investigate the genetic basis of the gray dilution phenotype in the Anyi tile-like gray chicken. We found that all Anyi tile-like gray chickens tested in this study carried at least one E allele, which is responsible for the appearance of black feathers, and some of them carried the FM allele, which is responsible for the black skin phenotype. A single nucleotide polymorphism (C.1909A>G) was identified within the melanophilin (MLPH) gene and was significantly associated with the gray dilution phenotype. Our findings suggest that the E and FM alleles act together to cause the development of the "five-black" phenotype (black feather, comb, skin, shank, and beak), whereas the MLPH mutation results in defective melanosome transport, leading to the development of the "five-gray" phenotype.

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Section: Association Of the Snp With Anyi Tile-like Gray Phenotypesmentioning

confidence: 48%

Section: Introductionmentioning

confidence: 99%

Interactions of allele E of the MC1R gene with FM and mutations in the MLPH gene cause the five-gray phenotype in the Anyi tile-like gray chicken

Xu¹,

Xie²,

Zou³

et al. 2016

Genet. Mol. Res.

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“…In particular, MLPH shows a strong XP-EHH signal in non-African populations, and RGS19 shows a strong iHS and XP-EHH signal in Bantu populations. MLPH is known to influence pigmentation in mouse (Matesic et al 2001), dog (Drogemuller et al 2007), cat (Ishida et al 2006), and chicken (Vaez et al 2008), and RGS19 was recently shown to influence pigmentation in mouse (McGowan et al 2008). These loci have not been identified in genome-wide association studies to date, but we note that there have been no genome-wide admixture mapping studies of pigmentation; this type of study will be necessary to confirm the role of these genes, if any, in between-population variation in pigmentation.…”

Section: à4mentioning

confidence: 99%

Signals of recent positive selection in a worldwide sample of human populations

Pickrell¹,

Coop²,

Novembre³

et al. 2009

Genome Res.

676

770

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Genome-wide scans for recent positive selection in humans have yielded insight into the mechanisms underlying the extensive phenotypic diversity in our species, but have focused on a limited number of populations. Here, we present an analysis of recent selection in a global sample of 53 populations, using genotype data from the Human Genome Diversity-CEPH Panel. We refine the geographic distributions of known selective sweeps, and find extensive overlap between these distributions for populations in the same continental region but limited overlap between populations outside these groupings. We present several examples of previously unrecognized candidate targets of selection, including signals at a number of genes in the NRG-ERBB4 developmental pathway in non-African populations. Analysis of recently identified genes involved in complex diseases suggests that there has been selection on loci involved in susceptibility to type II diabetes. Finally, we search for local adaptation between geographically close populations, and highlight several examples.

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“…3 Clearly, there is no consistency in the criteria used for delimitation of species, varieties and forms. Furthermore, it has been well described that colouration can vary considerably due to minor mutations in a few or even single genes (Clegg and Durbin 2000;Badyaev 2006;Vaez et al 2008) and/or environmental conditions (Turner 1988;Lymbery 1992;Follett and Hilbeck 1996;Chen et al 1996;Ben-Tal and King 1997;Price 2006). Thus, other lines of evidence as compatibility tests and molecular data are much needed.…”

Section: Introductionmentioning

confidence: 96%

A comparison between ITS phylogenetic relationships and morphological species recognition within Mycena sect. Calodontes in Northern Europe

et al. 2010

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The members of Mycena sect. Calodontes (Tricholomataceae s.l., Basidiomycota) are characterised by a collybioid aspect and more or less purplish to reddish colours and a distinct raphanoid odour. In Europe, nine species have been recognised though some of these based on somewhat dubious morphological differences. Historically, most were assigned to Mycena pura. However, since Mycena pura displays one of the most striking colour variabilities within European agarics, many attempts have been made to subdivide it into independent entities, and several forms, varieties and species have been split from Mycena pura s.l. based largely on differences in colouration, gross macromorphology or other phenetic traits. We developed a large sample of ITS sequences of all species of sect. Calodontes known from Europe for which vouchers exist. Furthermore, partial LSU data were developed and additional sequences downloaded from GENBANK to assess the relationship of Calodontes with other Mycena spp. We show that most Calodontes form a monophyletic group including a few North and South American collections, but that this cannot be conclusively shown when an additional North American sequence is added. For all other species than M. pura and M. diosma, we found morphological species recognition to be in agreement with the ITS data. Several significantly different clades can be recognised within the M. pura morphospecies, none of which can be linked to the observed (and described by proxy) colour varieties/forms. Indications of a possible environmental basis of the colour differentiation in the M. pura morphospecies are discussed.

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A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken

Cited by 63 publications

References 33 publications

Interactions of allele E of the MC1R gene with FM and mutations in the MLPH gene cause the five-gray phenotype in the Anyi tile-like gray chicken

Interactions of allele E of the MC1R gene with FM and mutations in the MLPH gene cause the five-gray phenotype in the Anyi tile-like gray chicken

Signals of recent positive selection in a worldwide sample of human populations

A comparison between ITS phylogenetic relationships and morphological species recognition within Mycena sect. Calodontes in Northern Europe

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