Relationship between the melanocortin receptor 1 (MC1R) gene and the coat color phenotype in cattle

2007 ◽  
Vol 29 (02) ◽  
pp. 195 ◽  
Author(s):  
Hai-Yun GAN
Keyword(s):  
Coat Color ◽  
Melanocortin Receptor ◽  
Mc1r Gene ◽  
Color Phenotype ◽  
Coat Color Phenotype

scholarly journals Mutations inMC1RGene Determine Black Coat Color Phenotype in Chinese Sheep

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Guang-Li Yang ◽  
Dong-Li Fu ◽  
Xia Lang ◽  
Yu-Tao Wang ◽  
Shu-Ru Cheng ◽  
...  
Keyword(s):  
Coat Color ◽  
Melanocortin Receptor ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Chi Square ◽  
Nonsynonymous Mutation ◽  
Synonymous Mutations ◽  
Chi Square Test ◽  
Color Phenotype ◽  
Coat Color Phenotype

The melanocortin receptor 1 (MC1R) plays a central role in regulation of animal coat color formation. In this study, we sequenced the complete coding region and parts of the 5′- and 3′-untranslated regions of theMC1Rgene in Chinese sheep with completely white (Large-tailed Han sheep), black (Minxian Black-fur sheep), and brown coat colors (Kazakh Fat-Rumped sheep). The results showed five single nucleotide polymorphisms (SNPs): two non-synonymous mutations previously associated with coat color (c.218 T>A, p.73 Met>Lys. c.361 G>A, p.121 Asp>Asn) and three synonymous mutations (c.429 C>T, p.143 Tyr>Tyr; c.600 T>G, p.200 Leu>Leu. c.735 C>T, p.245 Ile>Ile). Meanwhile, all mutations were detected in Minxian Black-fur sheep. However, the two nonsynonymous mutation sites were not in all studied breeds (Large-tailed Han, Small-tailed Han, Gansu Alpine Merino, and China Merino breeds), all of which are in white coat. A single haplotype AATGT (haplotype3) was uniquely associated with black coat color in Minxian Black-fur breed (P=9.72E-72, chi-square test). The first and second A alleles in this haplotype 3 represent location at 218 and 361 positions, respectively. Our results suggest that the mutations ofMC1Rgene are associated with black coat color phenotype in Chinese sheep.

scholarly journals High Polymorphism at the Human Melanocortin 1 Receptor Locus

Genetics ◽  
1999 ◽  
Vol 151 (4) ◽  
pp. 1547-1557 ◽  
Author(s):  
Brinda K Rana ◽  
David Hewett-Emmett ◽  
Li Jin ◽  
Benny H-J Chang ◽  
Naymkhishing Sambuughin ◽  
...  
Keyword(s):  
Protein Sequence ◽  
Nucleotide Diversity ◽  
Coat Color ◽  
Low Frequency ◽  
Melanocortin Receptor ◽  
Human Populations ◽  
Melanocortin 1 Receptor ◽  
Mc1r Gene ◽  
Southeast Asians ◽  
Color Changes

Abstract Variation in human skin/hair pigmentation is due to varied amounts of eumelanin (brown/black melanins) and phaeomelanin (red/yellow melanins) produced by the melanocytes. The melanocortin 1 receptor (MC1R) is a regulator of eu- and phaeomelanin production in the melanocytes, and MC1R mutations causing coat color changes are known in many mammals. We have sequenced the MC1R gene in 121 individuals sampled from world populations with an emphasis on Asian populations. We found variation at five nonsynonymous sites (resulting in the variants Arg67Gln, Asp84Glu, Val92Met, Arg151Cys, and Arg163Gln), but at only one synonymous site (A942G). Interestingly, the human consensus protein sequence is observed in all 25 African individuals studied, but at lower frequencies in the other populations examined, especially in East and Southeast Asians. The Arg163Gln variant is absent in the Africans studied, almost absent in Europeans, and at a low frequency (7%) in Indians, but is at an exceptionally high frequency (70%) in East and Southeast Asians. The MC1R gene in common and pygmy chimpanzees, gorilla, orangutan, and baboon was sequenced to study the evolution of MC1R. The ancestral human MC1R sequence is identical to the human consensus protein sequence, while MC1R varies considerably among higher primates. A comparison of the rates of substitution in genes in the melanocortin receptor family indicates that MC1R has evolved the fastest. In addition, the nucleotide diversity at the MC1R locus is shown to be several times higher than the average nucleotide diversity in human populations, possibly due to diversifying selection.

Genetic mapping of the (G)-locus, responsible for the coat color phenotype "progressive greying with age" in horses (Equus caballus)

2002 ◽  
Vol 13 (9) ◽  
pp. 535-537 ◽  
Author(s):  
Julia Henner ◽  
Pierre-André Poncet ◽  
Gérard Guérin ◽  
Christian Hagger ◽  
Gerald Stranzinger ◽  
...  
Keyword(s):  
Genetic Mapping ◽  
Coat Color ◽  
Equus Caballus ◽  
Color Phenotype ◽  
Coat Color Phenotype

scholarly journals A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat

Genomics ◽  
2006 ◽  
Vol 88 (6) ◽  
pp. 698-705 ◽  
Author(s):  
Yasuko Ishida ◽  
Victor A. David ◽  
Eduardo Eizirik ◽  
Alejandro A. Schäffer ◽  
Beena A. Neelam ◽  
...  
Keyword(s):  
Coat Color ◽  
Domestic Cat ◽  
Single Base ◽  
Single Base Deletion ◽  
Color Phenotype ◽  
Coat Color Phenotype

The mutations within MC1R, TYRP1, ASIP genes and their effects on phenotypes of coat color in wild pigs (Sus scrofa ussuricus )

2018 ◽  
Author(s):  
G. L. Yang ◽  
C. X. Shi ◽  
D. L. Fu ◽  
Z. Q. Li
Keyword(s):  
Association Analysis ◽  
Coat Color ◽  
Wild Type ◽  
Wild Boars ◽  
Phenotype Variation ◽  
Pig Breeds ◽  
Study Results ◽  
Color Phenotype ◽  
Coat Color Phenotype ◽  
Mutation Allele

Animal coloration is a powerful model for studying the genetic mechanisms that determine animal phenotypes. But, there has not been comprehensive characterization of the molecular basis of the complex patterns of coat color phenotype variation in wild boars. This study results indicated that the wild-type allele E+ of the MC1R gene was a dominant allele in wild boars and was not responsible for black, brown or other coat color phenotypes. A novel mutation c.695 T > C was identified in the 3¢-UTR of the ASIP gene. The association analysis showed that the C mutation allele was highly significantly associated with wild-type coat colors between wild boars and Western pig breeds (P=1.35E-33). A non-synonymous g.2254 G > A substitution was found in exon 2 of the TYRP1 gene (p.143His>Arg). The association analysis demonstrated that the G mutation allele was also significantly associated with wild-type coat colors between wild boars and Western pig breeds (P = 5.09E-10). In short, a few mutation sites in MC1R, ASIP, and TYRP1 genes were identified and surveyed several polymorphisms molecular variations in Chinese wild boars. In our identified mutations have caused the morphological diversity in wild boars, but did not influence coat color phenotype variation in some domesticated pig breeds. The conclusion was obtained that some mutations in color-associated genes were associated with wild-type coat colors in wild boar population, and that similar coat colorations observed in domesticated pig and wild boars can be the product of underlying differences in the genetic basis of color variants.

Soy Protein Isolate Reduces Hepatosteatosis in Yellow Avy/a Mice Without Altering Coat Color Phenotype

2008 ◽  
Vol 233 (10) ◽  
pp. 1242-1254 ◽  
Author(s):  
T. M. Badger ◽  
M. J. J. Ronis ◽  
G. Wolff ◽  
S. Stanley ◽  
M. Ferguson ◽  
...  
Keyword(s):  
Soy Protein ◽  
Coat Color ◽  
Soy Protein Isolate ◽  
Protein Isolate ◽  
Mrna Levels ◽  
Alcoholic Fatty Liver ◽  
Color Distribution ◽  
Sd Rats ◽  
Color Phenotype ◽  
Coat Color Phenotype

Agouti ( A vy/ a) mice fed an AIN-93G diet containing the soy isoflavone genistein (GEN) prior to and during pregnancy were reported to shift coat color and body composition phenotypes from obese-yellow towards lean pseudoagouti, suggesting epigenetic programming. Human consumption of purified GEN is rare and soy protein is the primary source of GEN. Virgin a/a female and Avy/a male mice were fed AIN-93G diets made with casein (CAS) or soy protein isolate (SPI) (the same approximate GEN levels as in the above mentioned study) for 2 wks prior to mating. A vy /a offspring were weaned to the same diets and studied at age 75 d. Coat color distribution did not differ among diets, but SPI-fed, obese A vy/ a offspring had lower hepatosteatosis ( P < 0.05) and increased ( P < 0.05) expression of CYP4a 14, a PPARα-regulated gene compared to CAS controls. Similarly, weanling male Sprague-Dawley (SD) rats fed SPI had elevated hepatic Acyl Co-A Oxidase (ACO) mRNA levels and increased in vitro binding of PPARα to the PPRE promoter response element. In another hepatosteatosis model, adult SD rats fed a high fat/cholesterol diet, SPI reduced ( P < 0.05) steatosis. Thus, 1) consumption of diets made with SPI partially protected against hepatosteatosis in yellow mice and in SD rats, and this may involve induction of PPARα-regulated genes; and 2) the lifetime ( in utero, neonatal and adult) exposure to dietary soy protein did not result in a shift in coat color phenotype of A vy/ a mice. These findings, when compared with those of previously published studies of A vy/ a mice, lead us to conclude that: 1) the effects of purified GEN differ from those of SPI when GEN equivalents are closely matched; 2) SPI does not epigenetically regulate the agouti locus to shift the coat color phenotype in the same fashion as GEN alone; and 3) SPI may be beneficial in management of non-alcoholic fatty liver disease

scholarly journals Membrane Targeting of Rab GTPases Is Influenced by the Prenylation Motif

2003 ◽  
Vol 14 (5) ◽  
pp. 1882-1899 ◽  
Author(s):  
Anita Q. Gomes ◽  
Bassam R. Ali ◽  
José S. Ramalho ◽  
Richard F. Godfrey ◽  
Duarte C. Barral ◽  
...  
Keyword(s):  
Coat Color ◽  
Temperature Shift ◽  
Rab Gtpases ◽  
Transgenic Expression ◽  
Geranylgeranyl Transferase ◽  
Prenyl Transferase ◽  
Color Phenotype ◽  
Coat Color Phenotype ◽  
Dependent Mechanism

Rab GTPases are regulators of membrane traffic. Rabs specifically associate with target membranes via the attachment of (usually) two geranylgeranyl groups in a reaction involving Rab escort protein and Rab geranylgeranyl transferase. In contrast, related GTPases are singly prenylated by CAAX prenyl transferases. We report that di-geranylgeranyl modification is important for targeting of Rab5a and Rab27a to endosomes and melanosomes, respectively. Transient expression of EGFP-Rab5 mutants containing two prenylatable cysteines (CGC, CC, CCQNI, and CCA) in HeLa cells did not affect endosomal targeting or function, whereas mono-cysteine mutants (CSLG, CVLL, or CVIM) were mistargeted to the endoplasmic reticulum (ER) and were nonfunctional. Similarly, Rab27aCVLL mutant is also mistargeted to the ER and transgenic expression on a Rab27a null background (Rab27aash) did not rescue the coat color phenotype, suggesting that Rab27aCVLL is not functional in vivo. CAAX prenyl transferase inhibition and temperature-shift experiments further suggest that Rabs, singly or doubly modified are recruited to membranes via a Rab escort protein/Rab geranylgeranyl transferase-dependent mechanism that is distinct from the insertion of CAAX-containing GTPases. Finally, we show that both singly and doubly modified Rabs are extracted from membranes by RabGDIα and propose that the mistargeting of Rabs to the ER results from loss of targeting information.

scholarly journals Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations.

Genetics ◽  
1990 ◽  
Vol 125 (2) ◽  
pp. 421-430 ◽  
Author(s):  
K J Moore ◽  
D A Swing ◽  
N G Copeland ◽  
N A Jenkins
Keyword(s):  
Neural Crest ◽  
Coat Color ◽  
Suppressor Gene ◽  
Hair Shaft ◽  
Exact Nature ◽  
Retinal Pigmented Epithelium ◽  
Eye Color ◽  
Pigmented Epithelium ◽  
Color Phenotype ◽  
Coat Color Phenotype

Abstract The murine dilute suppressor gene, dsu, was previously shown to suppress the dilute coat color phenotypes of mice homozygous for the dilute (d), leaden (ln), and ashen (ash) mutations. Each of these mutations produce adendritic melanocytes, which results in an abnormal transportation of pigment granules into the hair shaft and a diluted coat color. The suppression of each mutation is associated with the restoration of near normal melanocyte morphology, indicating that dsu can compensate for the absence of normal d, ln and ash gene products. In experiments described here, we have determined whether dsu can suppress the coat color phenotype of 14 additional mutations, at 11 loci, that affect coat color by mechanisms other than alterations in melanocyte morphology. In no case was dsu able to suppress the coat color phenotype of these 14 mutations. This suggests that dsu acts specifically on coat color mutations that result from an abnormal melanocyte morphology. Unexpectedly, dsu suppressed the ruby eye color of ruby-eye (ru) and ruby-eye-2 (ru-2) mice, to black. The exact nature of the defect producing these two mutant phenotypes is unknown. Histological examination of the pigmented tissues of the eyes of these mice indicated that dsu suppresses the eye color by increasing the overall level of pigmentation in the choroid but not the retinal pigmented epithelium. Choroid melanocytes, like those in the skin, are derived from the neural crest while melanocytes in the retinal pigmented epithelium are derived from the optic cup. This suggests that dsu may act specifically on neural crest-derived melanocytes. These studies have thus identified a second group of genes whose phenotypes are suppressed by dsu and have provided new insights into the mechanism of action of dsu.

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