Genetic analysis of the KIT and MC1R genes in Chinese indigenous pigs with belt-like coat color phenotypes.
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Coat color genes and cage temperature effects on care of the body surface (COBS) behavior of Meriones unguiculatus.
Male and female Mongolian gerbils (Meriones unguiculatus) carrying three coat color alleles, agouti, sandy, and black, were tested for 15 min under three cage temperature conditions, warm (35-40 degrees C), neutral (20 degrees C), and cold (0-5 degrees C). A frequency count of scratching, face and body wash, belly/side rubs, and shaking was taken of these animals' activities during the test sessions. Sex differences were not evident but coat color and age temperature affected the belly/side rubs and shaking activities. There were also effects of cage temperature but not coat color on face/body wash and scratching. It appears that animals with these coat color variants manifest disparate patterns of COBS behavior when encountering different thermal environments.
Animals↗
Head spot and dilute mutations in the Norway rat.
A mutant allele of a new white spotting locus in the Norway rat is described, which is designated as head spot (hs). The allele is inherited as a recessive to normal. The expression is regularly manifested and has the form of a white sport of variable size in the middle of the forehead just above the eyes. A probable reoccurrence of blue dilution coat color is also reported. Tests for genetic linkage for hs indicate that it is independent of the agouti, dilute, and hooded loci.
Alleles↗
Use of blood typing to confirm principles of coat-color genetics in horses.
The chestnut rule in equine coat-color genetics asserts that the inter se mating of chestnut horses never produces bay, black, brown or gray offspring. The gray rule asserts that a gray offspring must have at least one gray parent. Nine alleged exceptions to the chestnut rule, all involving bay offspring, and eight alleged exceptions to the gray rule, including four offspring that were also exceptions to the chestnut rule, were examined for parent-offspring genetic incompatibilities in as many as 17 genetic systems of blood-group markers. In all except one of the 17 cases it was possible to show that parentage had been incorrectly assigned. In 9 of the 16 exclusions it was possible to exclude the stallion irrespective of the mare and in one of the 16 exclusions it was possible to exclude the mare irrespective of the stallion. The percentage of exclusions, i.e., 94, was closely in line with expectation based on the established efficacy of these tests, about 90 percent, in excluding the incorrect stallion or stallions in paternity cases. Although the results strongly uphold the validity of the chestnut and gray rules in equine coat-color inheritance, they do not completely exclude the possibility that there could be rare exceptions to one or the other or both color rules. Insofar as equine registries may be concerned, the results clearly indicate that no alleged exception to the color rules should be considered eligible for registry in the absence of these tests.
Animals↗
Pigmentary switches in domestic animal species.
Although homogeneous pigmentation usually is observed in wild animals, most domestic animal species display a wide variety of coat colors. In fur animals, the coat color is an important production trait, and in other species such as cattle and sheep, the coat color is a major breed characteristic. Variability in coat color is seen both within and between breeds, and makes domesticated species unique for studying gene function and gene regulation of loci affecting pigmentation. In several species, mutations in the MC1-R gene have been shown to cause the dominant expression of black pigment. In fox, alleles of both the agouti and the MC1-R gene could cause eumelanin synthesis. In addition, a nonepistatic interaction between MC1-R and agouti has been observed, resulting in several different coat color phenotypes expressing a mixture of red and black pigmentation. Also in cattle and sheep, amino acid substitutions within the MC1-R explain the dominant inheritance of black pigmentation. Unlike the constitutively activated MC1-R found in the Alaska silver fox, dominant variants of the MC1-R found in cattle and sheep seem to be completely dominant with no antagonizing effect of agouti. MC1-R variants with premature stop codons are widespread in several cattle populations, indicating that this well-conserved gene has no other fundamental function beside pigmentation. Other well-established breed characteristics include distinct coat color patterns in which the distribution of melanocytes, partly regulated by the c-kit gene, seems to be involved.
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[Pleiotropic effect of the hooded mutation of the rat on male fertility].
Several reproductive parameters were studied in males homozygous (hh) or heterozygous (Hh) for the hooded mutation as compared with completely pigmented wild-type males (HH). Histological analysis of the testes was carried out in males of the three genotypes. The proportion of sterile males in homogeneous matings of homozygotes hh was twice as high as in matings of heterozygotes. The proportion of sterile males in matings yielding no progeny was also twice higher in homozygotes hh as compared with heterozygotes. No sterile males were detected in matings of completely pigmented wild-type animals. Unilateral cryptorchidism, a hypoplastic testis combined with a hyperplastic one, or hypoplasia of both testes were observed in some males homozygous for the hooded mutation. Morphologically, these defects were associated with underdevelopment or the complete absence of spermatogenic epithelium or with the presence of gaps and cells with large nondivided nuclei in the epithelium. The results showed that the hooded coat-color mutation exerts a pleiotropic effect on male fertility in rat.
Animals↗
The female brindled mouse as a model of Menkes' disease: the relationship of fur pattern to behavioral and neurochemical abnormalities.
The brindled mottled mutant mouse, a model of Menkes' disease, has alterations in copper homeostasis which cause, among other sequelae, neuronal degeneration in selected areas of brain. This work examined the neurochemical changes at postnatal days (PND) 15, 30 and 60 in females heterozygous for the sex-linked brindled mutation. These data were compared to behavioral alterations and to fur coat color at these same time points. The brindled heterozygotic females had lower concentrations of norepinephrine (NE) in the cingulate cortex, and higher levels of dopamine or dopamine metabolites in the cingulate cortex, thalamus and hypothalamus across all ages, although the difference was greatest at PND 15. The brindled females were much less active than their normal littermates at PND 15, but the differences were no longer evident at PND 30 and 60. Mottling of the fur is believed to result from low tyrosinase activity caused by abnormalities in copper metabolism. The fur pattern and behavior of the brindled mice were highly correlated with NE levels in the cingulate cortex and thalamus. These data show that female brindled mice have neurochemical abnormalities similar to (if less severe than) the male hemizygotes, that these abnormalities are regionally specific, are most apparent prior to 30 days of age, and are linked to behavioral deficits. These data also show that the extent of such deficits can be predicted by a quantitative analysis of the fur pattern of these females.
Age Factors↗
Inheritance of von Willebrand's disease in a colony of Doberman Pinschers.
OBJECTIVE: To determine the mode of inheritance of von Willebrand's disease (vWD) and perform linkage analysis between vWD and coat color or narcolepsy in a colony of Doberman Pinschers. ANIMALS: 159 Doberman Pinschers. PROCEDURE: von Willebrand factor antigen (vWF:Ag) concentration was measured by use of ELISA, and results were used to classify dogs as having low (< 20%), intermediate (20 to 65%), or high (> 65%) vWF:Ag concentration, compared with results of analysis of standard pooled plasma. Buccal bleeding time was measured, and mode of inheritance of vWD was assessed by pedigree analysis. RESULTS: von Willebrand's disease was transmitted as a single autosomal gene defect. Results suggested that 27.04% of dogs were homozygous for vWD, 62.26% were heterozygous, and 10.69% did not have the defect. Most homozygous and some heterozygous dogs had prolonged bleeding times. Dogs with diluted coat colors (blue and fawn) were significantly overrepresented in the homozygous group, compared with black and red dogs, but a significant link between vWD and coat color was not detected. CONCLUSIONS AND CLINICAL RELEVANCE: von Willebrand's disease is transmitted as an autosomal dominant trait with variable penetrance; most dogs in this colony (89.3%) were carriers of vWD. Homozygosity for vWD is not likely to be lethal. Some heterozygous dogs have prolonged bleeding times. An association between diluted coat colors and vWD may exist.
Animals↗
Congenital bilateral metacarpal deviation and medial patellar luxation in a young white-tailed deer (Odocoileus virginianus).
A 6-week-old white-tailed deer fawn (Odocoileus virginianus), found in Vermont, was presented with carpal contraction, 90 degrees medial deviation of the rear legs from the hock distally, and an abnormal coat color. Radiographically there was lateral deviation of both medial metacarpal bones and a Grade IV medial patellar luxation.
Abnormalities, Multiple↗
[Associations between the coat color and the blood-group system D antigens in horses].
The study of the association between the coat-color variants and the blood-group system D antigens in the populations of two related trotter breeds (Orlov Trotter and Russian Trotter) showed the presence of three associations between these characters in the Orlov Trotter breed. In the populations of Russian trotters, these associations were not detected. Possible reasons for the formation and maintenance of these associations and the role of the selection for coat color in the differentiation of breeds by the frequencies of some system D antigens are discussed.
Animals↗
[The mutant gene "wal" is active in cells of mouse hair follicles].
In order to determine the place of action of the mutant gene waved alopecia (wal), we have obtained chimeric wal/wal c/c Gpi-1aa<-->+/+ C/C Gpi-1bb animals by aggregation of eight-cellular embryos of BALB/c-wal/wal mice and CBA (+/+) mice. The presence or absence of the chimeric structure was determined from the mosaic nature of fur color and hair structure, as well as on the basis of the presence of electrophoretically distinct variants of glucosephosphate isomerase in blood. Chimeras had alternating transverse patches of different lengths and widths consisting of curly (genotype wal/wal) or straight (genotype +/+) hairs. The percentage of cells with wal/wal mutant genotype in chimeras established on the basis of glucosephosphate isomerase isozymes varied from 10 to 80%. A higher percentage of the parental wal/wal component in chimeras correlated with the number of patches having wavy hairs. Analysis of the fur pattern represented by the alternation of transverse patches of wavy or straight hairs in chimeric wal/wal (+/+ mice has shown that mutant gene wal acts in ectodermal cells of hair follicles.
Animals↗
[Effect of color mutation on the function of the adrenal cortex in chronic feed stress in American mink].
Effect of color mutations, headlund and aleutian, on the adrenocortical function was studied in American mink under stress conditions. The adrenocortical function was analysed in the course of gland's incubation in vitro. Natural environmental factors (sharp fall of temperature) and artificially limited feed served as stress factors. It was shown that minks heterozygous for color mutant alleles studied were more resistant to the stressors. This is associated with genetically mediated peculiarities of the action of hypophysial adrenocortical system which is characterized by more adequate reactivity towards stimuli acting. Thus, the effect of heterosis in minks heterozygous for color alleles may well be caused by their increased resistance to stress.
Adrenal Cortex↗
Influence of coat color genes on seizure behavior in Mongolian gerbils.
Seizure tendencies of three separate lines of Mongolian gerbils Meriones unguiculatus carrying three different coat color alleles were investigated. These alleles were agouti (A/-), black or nonagouti (a/a), or sandy (pink-eyed dilution p/p). Each animal was stroked on the back and then placed in a novel cage for 5 min while its seizure activity was measured in terms of latency, duration, and severity (grade). The results indicate that gerbils which are homozygous recessive at the pink-eyed dilution locus (sandy) exhibit less severe and shorter seizures than others. However, gerbils which are homozygous recessive at the agouti gene locus (black) show a shorter latency to manifest seizures than the other animals. These results indicate that the genetic mechanism determining coat color in Mongolian gerbils may also influence the susceptibility of these animals to seizure arising from novel stimulation.
Animals↗
Chinese white Rongchang pig does not have the dominant white allele of KIT but has the dominant black allele of MC1R.
The mast/stem cell growth factor receptor (KIT) and melanocortin receptor 1 (MC1R) mutations are responsible for coat color phenotypes in domestic pigs. Rongchang is a Chinese indigenous pig breed with a white coat color phenotype. To investigate the genetic variability of the KIT and MC1R genes and their possible association with the coat color phenotype in this breed, a gene duplication and splice mutation of KIT were diagnosed in a sample of 93 unrelated Rongchang animals. The results show that Rongchang pigs have a single copy of KIT without the splice mutation at the first nucleotide of intron 17, indicating that the dominant white I allele of KIT is not responsible for their white phenotype. The KIT mRNA and MC1R coding sequences were also determined in this breed. Three putative amino acid substitutions were found in the KIT gene between Rongchang and Western white pigs, their association with the Rongchang white phenotype remains unknown. For the MC1R gene, Rongchang pigs were demonstrated to have the same dominant black allele (E(D1)) as other Chinese breeds, supporting the previous conclusion that Chinese and Western pigs have independent domestication origin. We also clarified that the Rongchang white phenotype was recessive to nonwhite color phenotypes. Our results provide a good starting point for the identification of the mutations underlying the white coat color in Rongchang pigs.
Alleles↗
The value of hair cosmetics and pharmaceuticals.
As early as can be traced, written documents testify endeavors shown by humanity to please by means of the hair. Hair care, color and style play an important role in people's physical appearance and self-perception. Dermatologists should be knowledgeable about the procedures people follow to look their best and should have the competence to provide patients with information on the benefits and hazards of hair cosmetics and pharmaceuticals. Shampooing is the most common form of cosmetic hair treatment. The diversity of qualities expected from a shampoo by today's consumer surpass the primary function of cleansing. Current shampoo formulations are adapted to the variations associated with hair quality, hair care habit and specific problems related to the superficial condition of the scalp. Hand in hand, test methods are developed to evaluate the efficacy of hair care products so that consumers are offered products that perform as claimed. Through the development of cosmetics with pharmaceutically active compounds, products are evolving that are becoming more similar to topical therapeutic agents (cosmeceuticals). The efficacy of cosmeceuticals that claim to act as hair growth stimulants should be measured by the standards set by the drugs minoxidil and, more recently, oral finasteride. Finally, health hazards associated with the use of hair care products, especially rinse-off products, have been overemphasized by the media and need careful correction by opinion leaders.
Dermatitis, Allergic Contact↗
Visual genotyping of a coat color tagged p53 mutant mouse line.
The p53 knockout mouse has been widely used as a model in cancer research and other applications. Because neither homozygous nor heterozygous mutant p53 mice exhibit an overt phenotype, each animal requires laborious molecular genotyping. Here we describe a new p53 mutant mouse that is tagged with a tyrosinase coat color minigene. On an albino background, heterozygous tyrosinase-tagged p53 mutant mice exhibit a light tan coat color, while homozygous mutants display a darker brown coat color. Thus, by 8-10 days of age, mice with two, one, or no mutant p53 alleles are immediately distinguishable by their coat color, eliminating the time, costs, and errors associated with molecular genotyping. Moreover, the homozygous mutant p53-tyrosinase mice display a tumor incidence and spectrum virtually identical to previous p53 null mouse lines. Thus, tagging targeted mutations with such coat color markers provides a generally applicable genotyping method for embryonic stem cell-derived mice.
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A new inbred strain JF1 established from Japanese fancy mouse carrying the classic piebald allele.
A new inbred strain JF1 (Japanese Fancy Mouse 1) was established from a strain of fancy mouse. Morphological and genetical analysis indicated that the mouse originated from the Japanese wild mouse, Mus musculus molossinus. JF1 has characteristic coat color, black spots on the white coat, with black eyes. The mutation appeared to be linked to an old mutation piebald (s). Characterization of the causative gene for piebald, endothelin receptor type B (ednrb), demonstrated that the allele in JF1 is same as that of classic piebald allele, suggesting an identical origin of these two mutants. Possibly, classic piebald mutation was introduced from the Japanese tame mouse, which was already reported at the end of the 1700s. We showed that JF1 is a useful strain for mapping of mutant genes on laboratory strains owing to a high level of polymorphisms in microsatellite markers between JF1 and laboratory strains. The clarified genotypes of JF1 for coat color are "aa BB CC DD ss".
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Production of chimeric pigs and the analysis of chimerism using mitochondrial deoxyribonucleic acid as a cell marker.
Two injection methods were examined for making chimeras between Chinese pigs (Meishan) and European pigs (Landrace or Landrace x Large White). Furthermore, mitochondrial DNA (mtDNA) polymorphism was detected as a cell marker for the analysis of chimerism. In the first experiment, blastomeres were transplanted into embryos at the 4-16-cell stage. Of 41 transplanted embryos transferred into 3 females, 12 were single-colored, but no overt chimeras were obtained. Judging from coat color and mtDNA in white blood cells, 2 piglets in 2 litters were derived from injected blastomeres, and 10 piglets in 3 litters were derived from recipient blastomeres. In the second experiment, inner cell mass cells of Day 6 Landrace embryos were injected into blastocoels of Day 6 Meishan embryos. Of 35 injected embryos transferred into 3 females, 2 overt chimeras of each sex were obtained in a single litter. In the overt male chimera, mtDNA clearly showed chimerism in spleen, pancreas, brain, kidney, lung, liver, heart, testis, and small intestine. The overt female chimera showed chimerism not only in blood but also in germ line according to a progeny test. No chimerism was detected in any of the 21 single-colored piglets in the second experiment.
Animals↗