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

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

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.

scholarly journals Whole-Genome Resequencing Reveals Genetic Structure and Introgression in Chinese Pudong White Pigs

2021 ◽  
Author(s):  
Min Huang ◽  
Zhongping Wu ◽  
Xiaopeng Wang ◽  
Desen Li ◽  
Shaojuan Liu ◽  
...  
Keyword(s):  
Genetic Structure ◽  
Genome Sequencing ◽  
Coat Color ◽  
White Coat ◽  
Whole Genome ◽  
Genome Resequencing ◽  
Indigenous Pigs ◽  
Whole Genome Resequencing ◽  
Color Phenotype ◽  
Coat Color Phenotype

Abstract Background: Pudong white (PDW) pigs originating from Shanghai, are the only Chinese indigenous pigs with white coat color except Rongchang (RC) pigs. However, there is limited information about its overall genetic structure, relationship with other breeds especially the East Chinese (ECN) and European pig due to the white coat of PDW. Whole-genome sequencing provides the effective approach to get the unique information of genome. The high-depth whole-genome sequencing data of 26 global pig breeds, European Wild boars (EWB), Chinese Wild boars (CWB) and out group (OUT) were implemented to detect the genetic structure, signature of selection and potential exotic introgression in PDW pigs.Results: The PDW pigs belonging to ECN pigs based on genetic relationship, and harbor lower genetic diversity and higher inbreeding coefficient compared to other Chinese indigenous pigs. Both the f3 and D-statistics analysis demonstrated that PDW pigs shared apparent alleles with Large White (LW) pigs. Then, two statistics, haplotype heat-map, copy number variation (CNV) and rIBD analysis further revealed that PDW pigs carry the same KIT genotype and share haplotypes at PARG-MARCHF8 locus with LW pigs, suggesting that the lineage of European (EUR) pigs in PDW originated from LW pigs. After detecting the KIT mutations in different pig breeds, PDW was confirmed to be same with LW at DUP1, DUP2 and the splicing mutation on intron 17 of KIT which determine the white coat color phenotype in European white pigs.Conclusions: This study shows that ECN pigs crossed with LW pigs after introduced to China about 110-164 years ago, where the offspring carrying KIT genotype that caused white coat color phenotype, and then were selected due to the rare white coat color in Chinese indigenous pigs, gradually forming PDW pig breed. To our knowledge, this study gives the first thorough description of the genetic structure of PDW pig via whole-genome resequencing data. This study not only advances our understanding of genetic structure, molecular phylogeny, and molecular origin of PDW pigs, but also provides a basis for facilitating the development of a national project for the conservation and utilization of this unique Chinese local population.

scholarly journals Dilute suppressor dsu acts semidominantly to suppress the coat color phenotype of a deletion mutation, dl20J, of the murine dilute locus.

1988 ◽  
Vol 85 (21) ◽  
pp. 8131-8135 ◽  
Author(s):  
K. J. Moore ◽  
P. K. Seperack ◽  
M. C. Strobel ◽  
D. A. Swing ◽  
N. G. Copeland ◽  
...  
Keyword(s):  
Coat Color ◽  
Deletion Mutation ◽  
Color Phenotype ◽  
Coat Color Phenotype
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