Characterization of Japanese Quail yellow as a Genomic Deletion Upstream of the Avian Homolog of the Mammalian ASIP (agouti) Gene

Nadeau, Nicola J.; Minvielle, Francis; S, Itó; Inoue‐Murayama, Miho; Gourichon, David; Follett, Sarah A; Burke, Terry; Mundy, Nicholas I.

doi:10.1534/genetics.107.077073

Cited by 95 publications

(120 citation statements)

References 46 publications

Supporting

Mentioning

103

Contrasting

Unclassified

Order By: Relevance

“…In any case, this study has shown that the recessive black plumage color in quail was closely associated with the ASIP gene, and the results on the three alleles yellow, fawn-2, and recessive black are consistent with the existence of regulatory or structural mutations for this gene. Together with the study by Nadeau et al (2008), we have given here the first evidence that ASIP is functional in birds and that its effects on plumage color parallel that of ASIP on mouse coat color. Total RNA was purified from homogenized dorsal skin of three chicks from each of four phenotypes (wild type, yellow, fawn-2, and recessive black).…”

Section: Discussionsupporting

confidence: 59%

Recessive black Is Allelic to the yellow Plumage Locus in Japanese Quail and Associated With a Frameshift Deletion in the ASIP Gene

et al. 2008

Self Cite

View full text Add to dashboard Cite

The recessive black plumage mutation in the Japanese quail (Coturnix japonica) is controlled by an autosomal recessive gene (rb) and displays a blackish-brown phenotype in the recessive homozygous state (rb/rb). A similar black coat color phenotype in nonagouti mice is caused by an autosomal recessive mutation at the agouti locus. An allelism test showed that wild type and mutations for yellow, fawn-2, and recessive black in Japanese quail were multiple alleles (*N, *Y, *F2, and *RB) at the same locus Y and that the dominance relationship was Y *F2 . Y *Y . Y *N . Y *RB. A deletion of 8 bases was found in the ASIP gene in the Y *RB allele, causing a frameshift that changed the last six amino acids, including a cysteine residue, and removed the normal stop codon. Since the cysteine residues at the C terminus are important for disulphide bond formation and tertiary structure of the agouti signaling protein, the deletion is expected to cause a dysfunction of ASIP as an antagonist of a-MSH in the Y *RB allele. This is the first evidence that the ASIP gene, known to be involved in coat color variation in mammals, is functional and has a similar effect on plumage color in birds.

show abstract

Section: Discussionsupporting

confidence: 59%

Recessive black Is Allelic to the yellow Plumage Locus in Japanese Quail and Associated With a Frameshift Deletion in the ASIP Gene

et al. 2008

Self Cite

View full text Add to dashboard Cite

show abstract

“…Newton et al reported the up-regulation of MATP by NDP-MSH, which is abolished in melanocytes expressing RHC variants for MC1R (45). Slc24a5, also regulates melanogenesis (42,46) and is downregulated in yellow quails overexpressing agouti (47). In addition to the inhibitory effects of ASP on proteins related to melanosome maturation and function, ASP also modulated genes encoding proteins involved in melanosome transport, such as Rab27a, Rab38, and Hps3.…”

Section: Figmentioning

confidence: 99%

Microarray analysis sheds light on the dedifferentiating role of agouti signal protein in murine melanocytes via the Mc1r

Pape

Passeron

Giubellino

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

The melanocortin-1 receptor (MC1R) is a key regulator of pigmentation in mammals and is tightly linked to an increased risk of skin cancers, including melanoma, in humans. Physiologically activated by ␣-melanocyte stimulating hormone (␣MSH), MC1R function can be antagonized by a secreted factor, agouti signal protein (ASP), which is responsible for the lighter phenotypes in mammals (including humans), and is also associated with increased risk of skin cancer. It is therefore of great interest to characterize the molecular effects elicited by those MC1R ligands. In this study, we determined the gene expression profiles of murine melan-a melanocytes treated with ASP or ␣MSH over a 4-day time course using genome-wide oligonucleotide microarrays. As expected, there were significant reductions in expression of numerous melanogenic proteins elicited by ASP, which correlates with its inhibition of pigmentation. ASP also unexpectedly modulated the expression of genes involved in various other cellular pathways, including glutathione synthesis and redox metabolism. Many genes up-regulated by ASP are involved in morphogenesis (especially in nervous system development), cell adhesion, and extracellular matrix-receptor interactions. Concomitantly, ASP enhanced the migratory potential and the invasiveness of melanocytic cells in vitro. These results demonstrate the role of ASP in the dedifferentiation of melanocytes, identify pigment-related genes targeted by ASP and by ␣MSH, and provide insights into the pleiotropic molecular effects of MC1R signaling that may function during development and may affect skin cancer risk.pigmentation ͉ skin cancer A major determinant of the pigment phenotype of the skin is the melanocortin-1 receptor (MC1R), a G protein coupled receptor (GPCR) that regulates many functional aspects of melanocytes, including their dendricity, melanogenesis, and proliferation (1, 2). MC1R function can be activated by ␣-melanocyte-stimulating hormone (␣MSH), a POMC-derived peptide whose production in the skin (3) is increased by exposure to UV radiation (UV) via a p53-dependent mechanism (4). This interaction triggers increased melanin production (5, 6) and stimulates the repair of DNA photoproducts caused by UV (7-9), a phenomenon also induced by forskolin (10). It is therefore not surprising that MC1R polymorphisms are associated with a lighter pigment phenotype, including red hair/fair skin (11), with poor tanning responses (12) and an increased risk for melanoma and other skin cancers (13,14).MC1R signaling can be inhibited by the product of the agouti locus, agouti signal protein (ASP in mice, ASIP in humans), which acts as an inverse agonist of the murine Mc1r (15,16). In mice, ASP is expressed in skin and testis and during embryogenesis. The spatiotemporal expression of ASP in skin is responsible for the agouti hair phenotype (a pheomelanic band against a dark eumelanic background) and for the pale coloration on the neck, breast, and ventral surface (17). A high degree of polymorphism in the promoter of t...

show abstract

“…The totally yellowish or white coat color is also known to be generated by the ubiquitous expression of the antagonist ASIP (Fig. 1D), and typical examples can be found among laboratory mice (Miller et al, 1993), domestic sheep (Norris and Whan, 2008), and domestic quail (Nadeau et al, 2008). It is worth to note that in combination with the Asip-Mc1r system, other coat color related gene, such as the tyrosinase gene (Ollmann et al, 1998) could be involved in determining the yellow or white hair color.…”

Section: Molecular and Phenotypic Bases Of The Association Between MCmentioning

confidence: 98%

Evolutionary and phylogeographic views on Mc1r and Asip variation in mammals

Suzuki

2013

Genes Genet. Syst.

View full text Add to dashboard Cite

The purpose of this article is to provide basic knowledge about the Mc1r-Asip system that promotes the evolution of coat color in mammals, and to stimulate genetic, ecological, and phylogeographic studies focusing on color variation in natural populations. The topics reviewed herein include: the genetic system of the Mc1r and Asip genes related to phenotypic variation; the evolutionary implications of the genetic features recorded in their nucleotide sequences; and the validity of surveys in the wild of genetic variations in coat color, which would facilitate a better understanding of the genetic system, ecological meaning, natural history, and taxonomic reevaluation of species and local populations.

show abstract

Characterization of Japanese Quail yellow as a Genomic Deletion Upstream of the Avian Homolog of the Mammalian ASIP (agouti) Gene

Cited by 95 publications

References 46 publications

Recessive black Is Allelic to the yellow Plumage Locus in Japanese Quail and Associated With a Frameshift Deletion in the ASIP Gene

Recessive black Is Allelic to the yellow Plumage Locus in Japanese Quail and Associated With a Frameshift Deletion in the ASIP Gene

Microarray analysis sheds light on the dedifferentiating role of agouti signal protein in murine melanocytes via the Mc1r

Evolutionary and phylogeographic views on <i>Mc1r</i> and <i>Asip</i> variation in mammals

Contact Info

Product

Resources

About