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PubMed2003

Switching of melanocyte pigmentation associated with pituitary pars intermedia tumors in Rb+/- and p27-/- female mice with yellow pelage.

As an incidental finding in a study of mammary tumorigenesis, two lines of genetically engineered mice were observed to develop pigmentation changes of the fur. Mice with targeted mutations of the Rb1 (Rb) and Cdkn1b (p27kip1) genes were crossed from C57BL/6 (black coat color; eumelanin) and 129Sv (wild-type agouti coat color) backgrounds, respectively, to one with a dominant yellow coat color (phaeomelanin) carrying a transgene for Agouti under a keratinocyte specific promoter. Both Rb+/- and p27-/- mice developed pituitary tumors of the pars intermedia that were associated with a switch to black (eumelanic) fur but were not observed in sibling Rb+/+ and p27+/+ mice. This phenomenon was observed first in the vibrissae and, subsequently one to two weeks later, as periorbital and dorsal patches, and was associated with pituitary lesions larger than four millimeters in the longest dimension. In Rb+/- mice, pigmentation change preceded a moribund state attributable to the tumors by two to four weeks, whereas in p27-/- mice, the pigmentation alteration was earlier, more gradual, and prolonged. The switch from phaeomelanin to eumelanin in the fur is most likely due to out-competition of the agouti gene product by alpha-melanocyte-stimulating hormone from the pituitary tumors, an effect masked in black or agouti mice.

Animals↗
PubMed1988

Somatic and germ-line reverse mutation rates of the retrovirus-induced dilute coat-color mutation of DBA mice.

At present, the dilute (dv) coat-color mutation of DBA mice provides the only simple means for measuring the relative somatic and germ-line reverse mutation rates of retrovirus-induced mutations in mammals. The dv mutation was generated by the spontaneous integration of an ecotropic murine leukemia virus into noncoding sequences of the dilute locus. Reversion of the dv mutation occurs by provirus excision and is mediated by homologous recombination events involving the viral long terminal repeat sequences. Although numerous independent germ-line d+ revertants have been identified, somatic d+ revertants have not been reported previously. During the past 5 years, we have screened more than one million mice homozygous for the dv mutation to determine whether we could identify somatic d+ revertants. This survey has resulted in the identification of a somatic d+ revertant and has provided a data base from which we can estimate the relative somatic and germ-line excision frequencies of retroviruses in mice and speculate about the nature of homologous recombination events producing d+ revertant alleles.

Animals↗
PubMed1993

Influence of photoperiod on pineal melatonin synthesis, fur color, body weight, and reproductive function in the female Djungarian hamster, Phodopus sungorus.

In order to investigate female Djungarian hamsters' reactions to changes of the photoperiod, the following two experiments were performed. Experiment I: Age-matched female hamsters were exposed to either short (8L:16D) or long days (16L:8D) for 38 weeks. Initially, the short-day group showed a decline in body weight, associated with changes in gonadal function and fur color. This was not maintained by the short-day group which returned, on the most part, to long-day levels, thus becoming insensitive to this regressive lighting regimen. The time courses of these events compare well with those observed in males, which suggests a common mechanism. Experiment II: Two groups of female hamsters were exposed for 8 weeks to either long days or short days. At the end of the test period, the diurnal variations in pineal content of melatonin, serotonin, hydroxyindole acetic acid, and serum melatonin were estimated, revealing marked differences between the two groups. Not only was there a prolongation of melatonin synthesis observed in the short-day animals, but there was also a significant elevation of the melatonin levels when compared to the long-day animals. Together with recent findings in males, these findings lend support to the hypothesis that, in the Djungarian hamster, the elevation of nocturnal melatonin levels may be of additional significance, with respect to the physiological changes induced by short-day photoperiods.

Animals↗
PubMed2006

Genomic anatomy of the Tyrp1 (brown) deletion complex.

Chromosome deletions in the mouse have proven invaluable in the dissection of gene function. The brown deletion complex comprises >28 independent genome rearrangements, which have been used to identify several functional loci on chromosome 4 required for normal embryonic and postnatal development. We have constructed a 172-bacterial artificial chromosome contig that spans this 22-megabase (Mb) interval and have produced a contiguous, finished, and manually annotated sequence from these clones. The deletion complex is strikingly gene-poor, containing only 52 protein-coding genes (of which only 39 are supported by human homologues) and has several further notable genomic features, including several segments of >1 Mb, apparently devoid of a coding sequence. We have used sequence polymorphisms to finely map the deletion breakpoints and identify strong candidate genes for the known phenotypes that map to this region, including three lethal loci (l4Rn1, l4Rn2, and l4Rn3) and the fitness mutant brown-associated fitness (baf). We have also characterized misexpression of the basonuclin homologue, Bnc2, associated with the inversion-mediated coat color mutant white-based brown (B(w)). This study provides a molecular insight into the basis of several characterized mouse mutants, which will allow further dissection of this region by targeted or chemical mutagenesis.

Animals↗
PubMed1989

Effects of MSH on food intake, body weight and coat color of the yellow obese mouse.

Viable yellow obese mice (Avy/a) were treated for 10 days with 5, 15, 50 or 150 micrograms/d of either alpha-MSH or desacetyl-MSH. The half-maximal effect on weight gain occurred with a dose of 5 micrograms/d for desacetyl-MSH and at a 30 fold higher level of 150 micrograms/d for alpha-MSH. In contrast, the half-maximal stimulation of eumelanin production by alpha-MSH occurred at 15 micrograms/d and with desacetyl-MSH at 150 micrograms/d, a 10-fold increase. Desacetyl-MSH produced a dose-related increase in the weight of muscle, as well as white and brown adipose tissue. Desacetyl-MSH and alpha-MSH both increased plasma corticosterone concentrations, but desacetyl-MSH was more potent. In a 2 x 2 factorial designed study, body weight was significantly increased in viable yellow mice only by treatment with desacetyl-MSH but in the lean animals, both alpha-MSH and desacetyl-MSH increased body weight. Food intake was significantly different between genotypes, and was stimulated by desacetyl-MSH. These studies demonstrate potent differences in biological actions on food intake, body weight, and a variety of organ weights between acetylated and desacetylated forms of MSH.

Animals↗
PubMed2002

Unexpectedly high allelic diversity at the KIT locus causing dominant white color in the domestic pig.

Mutations in KIT encoding the mast/stem cell growth factor receptor (MGF) are responsible for coat color variation in domestic pigs. The dominant white phenotype is caused by two mutations, a gene duplication and a splice mutation in one of the copies leading to skipping of exon 17. Here we applied minisequencing and pyrosequencing for quantitative analysis of the number of copies with the splice form. An unexpectedly high genetic diversity was revealed in white pigs. We found four different KIT alleles in a small sample of eight Large White females used as founder animals in a wild boar intercross. A similar number of KIT alleles was found in commercial populations of white Landrace and Large White pigs. We provide evidence for at least two new KIT alleles in pigs, both with a triplication of the gene. The results imply that KIT alleles with the duplication are genetically unstable and new alleles are most likely generated by unequal crossing over. This study provides an improved method for genotyping the complicated Dominant white/KIT locus in pigs. The results also suggest that some alleles may be associated with negative pleiotropic effects on other traits.

Alleles↗
PubMed1998

Misty (m) affects growth traits.

The misty (m) coat color mutation is commonly maintained in linkage disequilibrium with the obesity mutation diabetes (Leprdb) to serve as a marker for Leprdb genotype. Comparisons among Leprdb genotypes are made under the untested assumption that m has no effects on traits under investigation. We tested this assumption in a population segregating m in the absence of db. Analysis of growth curves revealed that m/m mice are smaller than M/M mice by the 2nd wk of life and remain smaller through the 5th wk of life. Analysis of variance of three traits measured at 35 days of age revealed that m/m mice are 8% shorter than M/M mice, weigh 15% less, and have 21% less inguinal adipose mass. These results indicate that m affects growth traits. Therefore, when m and Leprdb segregate in the same cross, interpretation of their effects is confounded by linkage. More accurate estimates of Leprdb genotype effects can be made by removing m from populations segregating Leprdb and using a direct assay to measure Leprdb genotype.

Aging↗
PubMed2003

Cutaneous and ocular habronemiasis in horses: 63 cases (1988-2002).

OBJECTIVE: To describe clinical manifestations of cutaneous and ocular habronemiasis in horses and evaluate outcome of treatment. DESIGN: Retrospective study. ANIMALS: 63 horses. PROCEDURE: The diagnosis was made on the basis of history, clinical signs, and identification of calcified concretions (sulfur granules) in lesions. Histologic examination of biopsy specimens was used to confirm the diagnosis. Case horses were compared with a control population of 12,720 horses examined during the same period. RESULTS: Arabians, gray horses, and horses with diluted coat colors were overrepresented; Thoroughbreds were underrepresented. Lesions were identified most often during the summer and early fall. The medial canthus of the eye, male genitalia, third eyelid, and distal portions of the extremities were the most commonly affected locations. Twenty-five lesions were biopsied, and results of histologic examination were consistent with a diagnosis of habronemiasis. However, nematode larvae were seen in only 11 (44%) biopsy specimens. Treatment consisted of surgical removal (7 horses) or medical treatment (56) consisting of debulking granulation tissue and topical, intralesional, or systemic treatment with corticosteroids. All horses were treated with ivermectin. CONCLUSIONS AND CLINICAL RELEVANCE: Results suggest that cutaneous and ocular habronemiasis should be considered when examining a horse during the summer months with a proliferative, moist, granulomatous lesion. Treatment should be aimed at decreasing the size of the lesion, reducing inflammation, and preventing recurrence. In general, the prognosis was good, and healing occurred within a few weeks. Fly control and regular deworming with ivermectin are recommended to reduce the incidence of habronemiasis.

Age Distribution↗
PubMed1999

The Belt mutation in pigs is an allele at the Dominant white (I/KIT) locus.

A white belt is a common coat color phenotype in pigs and is determined by a dominant allele (Be). Here we present the result of a genome scan performed using a Hampshire (Belt)/Pietrain (non-Belt) backcross segregating for the white belt trait. We demonstrate that Belt maps to the centromeric region of pig Chromosome (Chr) 8 harboring the Dominant white (I/KIT) locus. Complete cosegregation between Belt and a single nucleotide polymorphism in the KIT gene was observed. Another potential candidate gene, the endothelin receptor type A gene (EDNRA), was excluded as it was assigned to a different region (SSC8q21) by FISH analysis. We argue that Belt is a regulatory KIT mutation on the basis of comparative data on mouse KIT mutants and our previous sequence analysis of the KIT coding sequence from a Hampshire pig. Quantitative PCR analysis revealed that Belt is not associated with a KIT duplication, as is the case for the Patch and Dominant white alleles. Thus, Belt is a fourth allele at the Dominant white locus, and we suggest that it is denoted I(Be).

Alleles↗
PubMed2000

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice.

The dilute (d), leaden (ln), and ashen (ash) mutations provide a unique model system for studying vesicle transport in mammals. All three mutations produce a lightened coat color because of defects in pigment granule transport. In addition, all three mutations are suppressed by the semidominant dilute-suppressor (dsu), providing genetic evidence that these mutations function in the same or overlapping transport pathways. Previous studies showed that d encodes a major vesicle transport motor, myosin-VA, which is mutated in Griscelli syndrome patients. Here, using positional cloning and bacterial artificial chromosome rescue, we show that ash encodes Rab27a. Rab GTPases represent the largest branch of the p21 Ras superfamily and are recognized as key players in vesicular transport and organelle dynamics in eukaryotic cells. We also show that ash mice have platelet defects resulting in increased bleeding times and a reduction in the number of platelet dense granules. These defects have not been reported for d and ln mice. Collectively, our studies identify Rab27a as a critical gene for organelle-specific protein trafficking in melanocytes and platelets and suggest that Rab27a functions in both MyoVa dependent and independent pathways.

Albinism, Oculocutaneous↗
PubMed2002

A large duplication associated with dominant white color in pigs originated by homologous recombination between LINE elements flanking KIT.

The Dominant White (I/KIT) locus is one of the major coat color loci in the pig. Previous studies showed that the Dominant White (I) and Patch (IP) alleles are both associated with a duplication including the entire KIT coding sequence. We have now constructed a BAC contig spanning the three closely linked tyrosine kinase receptor genes PDGFRA-KIT-KDR. The size of the duplication was estimated at about 450 kb and includes KIT, but not PDGFRA and KDR. Sequence analysis revealed that the duplication arose by unequal homologous recombination between two LINE elements flanking KIT. The same unique duplication breakpoint was identified in animals carrying the I and IP alleles across breeds, implying that Dominant White and Patch alleles are descendants of a single duplication event. An unexpected finding was that Piétrain pigs carry the KIT duplication, since this breed was previously assumed to be wild type at this locus. Comparative sequence analysis indicated that the distinct phenotypic effect of the duplication occurs because the duplicated copy lacks some regulatory elements located more than 150 kb upstream of KIT exon 1 and necessary for normal KIT expression.

Alleles↗
PubMed1993

Deficient testicular and adrenal steroidogenesis in mutant cream (e/e) Syrian hamsters.

Coat color genes have been shown to be developmental genes with wide pleiotropic actions. The present study was undertaken to analyze the effects of mutations at the e locus of the Syrian hamster on testicular and adrenal steroidogenesis. Although no differences in body weight were detected, cream (e/e) hamsters had larger testes and smaller adrenals than wildtype (+/+) animals. Plasma testosterone levels were lower in e/e than in +/+ hamsters. However; testicular progesterone levels were higher, and 17-OH-progesterone and testosterone levels were lower in e/e when compared to +/+ hamsters. The efficiency of testicular 17-hydroxylase appear to be reduced in e/e hamsters. Adrenal progesterone levels were higher. 17-OH-progesterone, testosterone, dehydroepiandrosterone sulphate and aldosterone levels were similar, and cortisol levels were lower in e/e when compared to +/+ hamsters. The efficiencies of adrenal 17-hydroxylase and 17-hydroxysteroid dehydrogenase appear to be reduced in e/e hamsters. The present data indicate that steroidogenic deficiencies are present in the testes and adrenals of e/e hamsters, and that the gonadal alterations are more severe than the adrenal ones. The e locus, in the hamster, could be a developmental gene, or could be coding for a component in a signaling pathway under the control of such a gene.

Adrenal Cortex↗
PubMedDate not supplied

Seasonal adjustment of solar heat gain independent of coat coloration in a desert mammal.

Despite the apparent importance of solar radiation as a source of heat for free-living animals, there exists no substantial body of empirical data describing physiological responses to solar radiation under the range of convective conditions likely to occur in nature. We therefore quantified effects of simulated solar radiation and wind on metabolic heat production in the rock squirrel, Spermophilus variegatus. This diurnal mammal inhabits the Sonoran Desert and seasonally replaces its pelage in a fashion in which it retains constant external appearance but incorporates optical and structural changes that are thought to significantly alter heat-transfer properties of the coat. At a given wind speed, the presence of 950 W m-2 of simulated solar radiation reduces metabolic heat production by 15% (at a wind speed of 4 m s-1) to 37% (at a wind speed of 0.25 m s-1). Independent of effects of irradiance, metabolic heat production significantly increases with wind speed such that as wind speed is increased from 0.25 m s-1 to 4.0 m s-1, metabolic heat production is elevated by 66% (sunlight absent) or 88% (sunlight present). Previous analyses demonstrated that when exposed to identical radiative and convective environments rock squirrels with summer pelages accrue solar heat loads 33%-71% lower than those experienced by animals with winter coats. This reduction of solar heat gain during the extremely hot Sonoran Desert summer apparently constitutes a previously unappreciated mode of thermal adaptation by seasonal adjustment of radiative heat gain without changes in the animal's appearance.

Acclimatization↗
PubMedDate not supplied

Coat color genetics of Peromyscus: IV. Variable white, a new dominant mutation in the deer mouse.

The variable white mutation arose spontaneously in 1983 within a laboratory stock of wild-type deer mice (Peromyscus maniculatus). The original mutant animal was born to a wild-type pair that had previously produced several entirely wild-type litters. Other variable white animals were bred from the initial individual. Variable white deer mice exhibit extensive areas of white on the head, sides, and tail. Usually a portion of pigmented pelage occurs dorsally and on the shoulders, but the extent of white varies from nearly all white to patches of white on the muzzle, tip of tail, and sides. The pattern is irregular, but not entirely asymmetrical. Eyes are pigmented, but histologically reveal a decrease in thickness and pigmentation of the choroid layer. Many variable white animals do not respond to auditory stimuli, an effect that is particularly evident in animals in which the head is entirely white. Ataxic behavior is also prevalent. Pigment distribution, together with auditory and retinal deficiencies, suggests a neural crest cell migration defect. Breeding data are consistent with an autosomal semidominant, lethal mode of inheritance. The trait differs from two somewhat similar variants in Peromyscus: from dominant spot (S) in extent and pattern of pigmentation and from whiteside (ws), an autosomal recessive trait, in the mode of inheritance and viability. Evidence for possible homology with the Va (varitint-waddler) locus in house mouse (Mus) is presented. The symbol Vw is tentatively assigned for the variable white locus in Peromyscus.

Animals↗
PubMed1999

Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle.

An inheritable bleeding disorder with light coat color caused by an autosomal recessive gene has been reported in a population of Japanese black cattle. The disease has been diagnosed as Chediak-Higashi Syndrome (CHS) of cattle which correspond to a human inheritable disorder caused by mutation in LYST gene. To characterize the molecular lesion causing CHS in cattle, cDNAs encoding bovine LYST were isolated from a bovine brain cDNA library. The nucleotide and deduced amino acid sequences of bovine LYST had 89.6 and 90.2% identity with those of the human LYST gene, respectively. In order to identify the mutation within the LYST gene causing CHS in cattle, cDNA fragments of the LYST gene were amplified from an affected animal by RT-PCR and their nucleotide sequences were completely determined. Notably, a nucleotide substitution of A to G transition, resulting in an amino acid substitution of histidine to arginine (H2015R) was identified in the affected animal. The presence of the substitution was completely corresponding with the occurrence of the CHS phenotype among 105 members of pedigrees of the Japanese black cattle and no cattle of other populations had this substitution. These findings strongly suggested that H2015R is the causative mutation in CHS of Japanese black cattle.

Amino Acid Sequence↗
PubMed1995

Molecular genetic characterization of six recessive viable alleles of the mouse agouti locus.

The agouti locus on mouse chromosome 2 encodes a secreted cysteine-rich protein of 131 amino acids that acts as a molecular switch to instruct the melanocyte to make either yellow pigment (phaeomelanin) or black pigment (eumelanin). Mutations that up-regulate agouti expression are dominant to those causing decreased expression and result in yellow coat color. Other associated effects are obesity, diabetes, and increased susceptibility to tumors. To try to define important functional domains of the agouti protein, we have analyzed the molecular defects present in a series of recessive viable agouti mutations. In total, six alleles (amJ, au, ada, a16H, a18H, ae) were examined at both the RNA and DNA level. Two of the alleles, a16H and ae, result from mutations in the agouti coding region. Four alleles (amJ, au, a18H, and ada) appear to represent regulatory mutations that down-regulate agouti expression. Interestingly, one of these mutations, a18H, also appears to cause an immunological defect in the homozygous condition. This immunological defect is somewhat analogous to that observed in motheaten (me) mutant mice. Short and long-range restriction enzyme analyses of homozygous a18H DNA are consistent with the hypothesis that a18H results from a paracentric inversion where one end of the inversion maps in the 5' regulatory region of agouti and the other end in or near a gene that is required for normal immunological function. Cloning the breakpoints of this putative inversion should allow us to identify the gene that confers this interesting immunological disorder.

Agouti Signaling Protein↗
PubMed1996

Pigs with the dominant white coat color phenotype carry a duplication of the KIT gene encoding the mast/stem cell growth factor receptor.

Comparative mapping data suggested that the dominant white coat color in pigs may be due to a mutation in KIT which encodes the mast/stem cell growth factor receptor. We report here that dominant white pigs lack melanocytes in the skin, as would be anticipated for a KIT mutation. We found a complete association between the dominant white mutation and a duplication of the KIT gene, or part of it, in samples of unrelated pigs representing six different breeds. The duplication was revealed by single strand conformation polymorphism (SSCP) analysis and subsequent sequence analysis showing that white pigs transmitted two nonallelic KIT sequences. Quantitative Southern blot and quantitative PCR analysis, as well as fluorescence in situ hybridization (FISH) analysis, confirmed the presence of a gene duplication in white pigs. FISH analyses showed that KIT and the very closely linked gene encoding the platelet-derived growth factor receptor (PDGFRA) are both located on the short arm of Chromosome (Chr) 8 at band 8p12. The result revealed an extremely low rate of recombination in the centromeric region of this chromosome, since the closely linked (0.5 cM) serum albumin (ALB) locus has previously been in situ mapped to the long arm (8q12). Pig Chr 8 shares extensive conserved synteny with human Chr 4, but the gene order is rearranged.

Animals↗
PubMed2006

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

Three proteins have been described in humans and mice as being essential for even distribution, transport, and translocation of pigment granules, with defects in these molecules giving rise to lighter skin/coat color. The dilute phenotype in domestic cats affects both eumelanin and phaeomelanin pigment pathways; for example, black pigmentation combined with dilute appears gray and orange pigments appear cream. The dilute pigmentation segregates as a fully penetrant, autosomal recessive trait. We conducted classical linkage mapping with microsatellites in a large multigeneration pedigree of domestic cats and detected tight linkage for dilute on cat chromosome C1 (theta=0.08, LOD=10.81). Fine-mapping identified a genomic region exhibiting conserved synteny to human chromosome 2, which included one of the three dilute candidate genes, melanophilin (MLPH). Sequence analysis in dilute cats identified a single base pair deletion in exon 2 of MLPH transcripts that introduces a stop codon 11 amino acids downstream, resulting in the truncation of the bulk of the MLPH protein. The occurrence of this homozygous variant in 97 unrelated dilute cats representing 26 cat breeds and random-bred cats, along with 89 unrelated wild-type cats representing 29 breeds and random-bred cats, supports the finding that dilute is caused by this single mutation in MLPH (p<0.00001). Single-nucleotide polymorphism analyses in dilute individuals identified a single haplotype in dilute cats, suggesting that a single mutation event in MLPH gave rise to dilute in domestic cats.

Adaptor Proteins, Signal Transducing↗