Melanocortin 1‐receptor (<i>MC1R</i>) mutations are associated with plumage colour in chicken

Kerje, Susanne; Lind, Jenny; Schütz, Karin E.; Jensen, Per; Andersson, Leif

doi:10.1046/j.1365-2052.2003.00991.x

Cited by 174 publications

(165 citation statements)

References 24 publications

(27 reference statements)

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“…We have previously demonstrated that Dominant white in White Leghorns is due to a 9-bp insertion in the coding sequence of PMEL17 (Kerje et al 2004) and Extended black represents a missense mutation in the gene for the melanocortin 1-receptor (MC1R) (Kerje et al 2003). Since the single The chicken L347M mutation associated with Silver.…”

Section: Assignment Of Slc45a2 To the Chicken Linkage Mapmentioning

confidence: 99%

“…A three-generation pedigree from an intercross between one red jungle fowl (RJF) male and three White Leghorn (WL) females has been generated for gene mapping (Schutz et al 2002). From the F 1 generation four males and 37 females were selected to generate an F 2 generation, showing a wide diversity of plumage color (Kerje et al 2003). Two other family materials were also used.…”

Section: Animalsmentioning

confidence: 99%

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Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail

et al. 2007

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S *S (Silver), S *N (wild type/gold), and S *AL (sex-linked imperfect albinism) form a series of alleles at the S (Silver) locus on chicken (Gallus gallus) chromosome Z. Similarly, sex-linked imperfect albinism (AL*A) is the bottom recessive allele at the orthologous AL locus in Japanese quail (Coturnix japonica). The solute carrier family 45, member 2, protein (SLC45A2), previously denoted membrane-associated transporter protein (MATP), has an important role in vesicle sorting in the melanocytes. Here we report five SLC45A2 mutations. The 106delT mutation in the chicken S *AL allele results in a frameshift and a premature stop codon and the corresponding mRNA appears to be degraded by nonsense-mediated mRNA decay. A splice-site mutation in the Japanese quail AL*A allele causes in-frame skipping of exon 4. Two independent missense mutations (Tyr277Cys and Leu347Met) were associated with the Silver allele in chicken. The functional significance of the former mutation, associated only with Silver in White Leghorn, is unclear. Ala72Asp was associated with the cinnamon allele (AL*C ) in the Japanese quail. The most interesting feature concerning the SLC45A2 variants documented in this study is the specific inhibition of expression of red pheomelanin in Silver chickens. This phenotypic effect cannot be explained on the basis of the current, incomplete, understanding of SLC45A2 function. It is an enigma why recessive null mutations at this locus cause an almost complete absence of both eumelanin and pheomelanin whereas some missense mutations are dominant and cause a specific inhibition of pheomelanin production.

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Section: Assignment Of Slc45a2 To the Chicken Linkage Mapmentioning

confidence: 99%

Section: Animalsmentioning

confidence: 99%

Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail

et al. 2007

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“…D-loop control region은 non-coding region으로 기능 적인 역할을 담당하지 않고 변이가 다른 영역보다 두드러지 기 때문에 많이 활용되었고, COI 유전자는 주로 조류의 품종 구분 연구에 주로 활용되어 왔다 (Hebert et al, 2003 (Cheng and Crittenden, 1994;Kaya and Yildz, 2008 (Kim et al, 2004;Cahyadi et al, 2013). 특히, MC1R 유전자는 다양한 축종에서 피모색 과 관련된 유전변이를 찾고자 연구가 수행되어져 왔다 (Kerje et al, 2003;Maklund et al, 1996;Vage et al, 1999) Heo 등 (2011) Hoque et al (2013), Kim et al (2014) c.212C>T Nonsynonymous Heo et al (2011, Jin et al (2014) c.274A>G…”

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DNA Markers for the Genetic Diversity in Korean Native Chicken Breeds: A Review

Seo¹,

Lee²

2016

Korean Journal of Poultry Science

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The genetic diversity of Korean native chicken is important for conservation of native chicken breeds and developing economically valuable traits in Korea. In this review, various types of genetic markers using Korean native chickens were investigated, which are mtDNA variations, microsatellite markers, markers in Major Histocompatibility Complex (MHC), and single nucleotide polymorphisms (SNPs). These genetic markers are suitable for breed discrimination and diversity studies because of their high polymorphism status. Thus, the purpose of this study was to summarize the genetic markers developed in the Korean native chickens and diversity studies using these breeds. Ultimately, these markers can be used for the future studies for understanding of genetic characteristics.

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“…MC1R has a vital role in melanogenesis, as melanocytes produce black/brown eumelanin with active MC1R and red/yellow pheomelanin without MC1R signalling (Robbins et al, 1993). Polymorphisms in MC1R have also been documented and associated with coat colour variance in many domestic species, such as dogs, chickens, cats and cattle (Klungland et al, 1995;Eizirik et al, 2003;Kerje et al, 2003;Anderson et al, 2009). In pigs, six MC1R alleles associated with different colour phenotypes have been reported (Giuffra et al, 2000;Kijas et al, 1998Kijas et al, , 2001).…”

Section: Introductionmentioning

confidence: 99%

Artificial selection of the melanocortin receptor 1 gene in Chinese domestic pigs during domestication

Yang

et al. 2010

Heredity

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Black coat colour is common in Chinese indigenous domestic pigs, but not among their wild ancestors, and it is thus presumed to be a 'domestication trait.' To determine whether artificial interference contributes to morphological diversification, we examined nucleotide variation from 157 Chinese domestic pigs and 40 wild boars in the melanocortin receptor 1 (MC1R) gene, which has a key role in the coat pigmentation of Sus scrofa. Compared with a pseudogene GPIP, our results showed that the joint effects of demography and selection have resulted in markedly low genetic diversity of MC1R in Chinese domestic pigs. Coalescent simulation and selection tests further suggest that the fixation of two non-synonymous substitutions associated with black colour is the result of artificial selection. In contrast, a much higher genetic diversity and only a single non-synonymous substitution were found among the wild boars, suggesting a strong functional constraint. Moreover, our conclusion is consistent with the preference for black colour in the ancient Chinese sacrificial culture. This case provides an interesting example of a molecular evaluation of artificial livestock selection and its associated cultural impact in ancient China.

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Melanocortin 1‐receptor (MC1R) mutations are associated with plumage colour in chicken

Cited by 174 publications

References 24 publications

Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail

Mutations in SLC45A2 Cause Plumage Color Variation in Chicken and Japanese Quail

DNA Markers for the Genetic Diversity in Korean Native Chicken Breeds: A Review

Artificial selection of the melanocortin receptor 1 gene in Chinese domestic pigs during domestication

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