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PubMed2000

Defective organellar membrane protein trafficking in Ap3b1-deficient cells.

AP-3 is a heterotetrameric protein complex involved in intracellular vesicle transport. Molecular analyses show that Ap3b1, which encodes the AP-3 (&bgr;)3A subunit, is altered in pearl mice. To provide genetic evidence that mutation of Ap3b1 is responsible for the pearl phenotype and to determine the null phenotype, the Ap3b1 gene was disrupted by homologous recombination. Mice homozygous for the resulting allele, Ap3b1(LN), or compound heterozygotes with pearl, displayed phenotypes similar to those of pearl mice, confirming that Ap3b1 is the causal gene for pearl. Moreover, pearl is likely to be a hypomorph as the Ap3b1(LN) homozygotes had a lighter coat color and accumulated fewer of the micro3 and (&dgr;)3 subunits of AP-3 than did pearl mice. Finally, immunofluorescence analysis of fibroblasts and melanocytes cultured from Ap3b1(LN) homozygotes revealed that the lysosomal membrane proteins Lamp I and Lamp II and the melanosomal membrane protein tyrosinase were mislocalized. In particular, the Lamp proteins were clustered on the cell surface. These findings strengthen the evidence for an alternate pathway via the plasma membrane for cargo normally transported to organelles by AP-3.

Adaptor Protein Complex 3↗
PubMed2003

Molecular genetics and evolution of melanism in the cat family.

Melanistic coat coloration occurs as a common polymorphism in 11 of 37 felid species and reaches high population frequency in some cases but never achieves complete fixation. To investigate the genetic basis, adaptive significance, and evolutionary history of melanistic variants in the Felidae, we mapped, cloned, and sequenced the cat homologs of two putative candidate genes for melanism (ASIP [agouti] and MC1R) and identified three independent deletions associated with dark coloration in three different felid species. Association and transmission analyses revealed that a 2 bp deletion in the ASIP gene specifies black coloration in domestic cats, and two different "in-frame" deletions in the MC1R gene are implicated in melanism in jaguars and jaguarundis. Melanistic individuals from five other felid species did not carry any of these mutations, implying that there are at least four independent genetic origins for melanism in the cat family. The inferred multiple origins and independent historical elevation in population frequency of felid melanistic mutations suggest the occurrence of adaptive evolution of this visible phenotype in a group of related free-ranging species.

Animals↗
PubMedDate not supplied

Coat color genetics of Peromyscus: III. Golden-nugget--a recessive trait in the white-footed mouse, P. leucopus.

A novel pelage color variant appeared in a laboratory colony of white-footed mice (Peromyscus leucopus) from Massachusetts. The mature adult coat color of this variant exhibits a rich golden tan appearance on the dorsum with white underparts. The trait is inherited as an autosomal recessive. Phenotypic comparisons with other rodents suggest that the trait is attributable to an allele at the brown (b) locus. Under laboratory conditions homozygous or heterozygous golden-nugget Peromyscus do not differ significantly from the wild type in litter size, litter survival, nest defense, or body weight. The possibility that the allele confers some adaptive value in nature is considered. The trait is given the tentative designation bgn (golden-nugget).

Animals↗
PubMed1999

Physiological consequences of ectopic agouti gene expression: the yellow obese mouse syndrome.

This review summarizes primary and downstream phenotypic manifestations, with emphasis on altered responsiveness to environmental stimuli, of dominant yellow mutations at the mouse agouti locus. Obvious effects include hyperinsulinemia, obesity, stimulation of somatic growth and tumorigenesis, and coat color. Downstream influences of hyperinsulinemia and obesity on the individual's physiology determine important components of the obese yellow agouti mouse syndrome. Collectively, the phenotypic aberrations described support the concept that identical genomes are expressed in a spectrum of physiological phenotypes that reflect the complex interdependence of gene-regulated physiological pathways and processes in the organism throughout extended, but temporally ordered, periods of fetal and neonatal development and aging. This summary identifies important areas for additional research and provides integrated information required for a systematic approach to the development of interventions for common adult human health problems.

Agouti Signaling Protein↗
PubMedDate not supplied

Tobiano spotting pattern in horses: linkage of To with AlA and linkage disequilibrium.

In a study of 2,786 tobiano and non-tobiano horses involved in paint horse breeding programs throughout the United States, the inheritance of the tobiano color pattern gene was tracked in pedigrees using the tightly linked polymorphic albumin gene. The dominant tobiano allele (T(o)), which produces the tobiano spotting pattern in horses, was in coupling with both AIA and AIB alleles at the albumin locus. The frequency of the T(o):AIA linkage phase among all the homozygous tobiano horses in this study including offspring and parents (N = 127), was 0.08. The T(o):AIB linkage phase was the most frequent (0.92). Linkage disequilibrium exists between the tobiano and albumin loci. The linkage disequilibrium parameter (D) was calculated as D = 0.056 at 79% of maximum linkage disequilibrium.

Alleles↗
PubMed1976

[Mutagenic effect of radiation on mice, subjected to gamma-irradiation during the embryonic period. III. Frequency of coat color mosaics among mice, heterozygous for recessive mutations, subjected to irradiation during the early periods of embryogenesis].

The frequency of coat colour and coat length mosaics was investigated among heterozygous for 7 or 6 recessive mutations mice, that were gamma-irradiated at doses of 100 or 200 r at different stages of embryogenesis. Only 4 mosaics with gray coat spots were found among 1399 animals that developed from embryos irradiated at doses of 100--200 r within 4,5--13,5 days of embryogenesis. 3 of these mosaics were found among 756 animals irradiated at the dose of 100 r at the 10,5 day of embryogenesis (0,35%). This frequency is considerably lower that the frequency of coat colour mosaics obtained by other authors in similar experiments.

Animals↗
PubMed1996

A diabetogenic gene, ODB2, identified on chromosome 14 of the OLETF rat and its synergistic action with ODB1.

Genetic analysis of diabetogenic genes involved in developing spontaneous diabetes of NIDDM type in the OLETF rat was performed in (OLETF female X B N male)F2 and (OLETF female X BN male)F1 female X OLETF male backcross male offspring. In the F2 and/or backcross offspring, a high frequency of diabetes was found to be associated with a coat color gene, H (hooded). Since it is know that H gene is located on chromosome 14. an attempt was made to examine the linkage association of the gene responsible for elevating plasma glucose with various microsatellite markers of chromosome 14 in male F2 and/or backcross offspring. The results show that a high linkage exists with a microsatellite marker, D14Mit4 (LOD > 2). The gene was designated Odb2. It was also found that both genes, Odb1 which was previously found on chromosome X, and homozygous Odh2 are required to cause elevated plasma glucose in OGTT.

Animals↗
PubMedDate not supplied

[The postnatal ontogenetic characteristics of adrenal function in female water voles Arvicola terrestris with different fur colors].

Studies have been made of the effect of colour mutation on the development of the adrenals in female aquatic voles. Colour mutation in homozygote results in retarded growth rate of the whole body and the adrenals, as well as in postnatal changes in the dynamics of corticosteron content in the blood. Obviously, the effect of colour mutation on plasma concentrations of corticosteron is realised mainly via extra-adrenal mechanisms since no differences were found in corticosteron production by the adrenals and in the adrenal reaction to ACTH (5 U/g of the adrenals) in vitro in growing aquatic voles. During postnatal life, mutant black females exhibited lower sensitivity of the adrenals to the inhibitory influence of estradiol (40 ng/100 mg of the adrenals) as compared to wild phenotype animals.

Adrenal Glands↗
PubMed1991

Ectopic expression of a c-kitW42 minigene in transgenic mice: recapitulation of W phenotypes and evidence for c-kit function in melanoblast progenitors.

The proto-oncogene c-kit encodes a transmembrane tyrosine kinase receptor that is allelic with the murine white-spotting locus (W). W mutations affect melanogenesis, gametogenesis, and hematopoiesis during development and adult life, and they result from the partial or complete loss of c-kit function. The W42 allele is a W mutation with severe effects in both the homozygous and the heterozygous states. Previous analysis of the W42 allele identified a missense mutation in an essential amino acid of the c-kitW42 kinase domain that abolishes the in vitro kinase activity of the c-kitW42 protein but does not affect its normal expression. These results suggested that the c-kitW42 allele was a dominant negative mutation within the context of c-kit-mediated signal transduction. To further explore the dominant negative characteristics of the W42 mutation, we have generated transgenic mice in which ectopic expression is driven by the human beta-actin promoter (hAP). Two mouse lines carrying the hAP-c-kitW42 transgene show an effect on pigmentation and the number of tissue mast cells. The patchy coat color pattern of the line 695 mice may reflect variable expression of the transgene in melanoblast progenitors and their descendants and, consequently, is indicative of a function for c-kit in early melanoblasts. Germ cell development and erythropoiesis, however, do not appear to be affected by the transgene. Mice expressing the c-kitW42 transgene therefore recapitulate some of the phenotypes of mice with W mutations. These results are therefore in agreement with the molecular basis of the W42 mutation and the dominant-negative characteristics of the c-kitW42 protein product.

Alleles↗
PubMed1984

A relationship between frequency of display of territorial marking behavior and coat color in male Mongolian gerbils.

Mongolian gerbils exhibit a territorial marking behavior which is androgen dependent and sexually dimorphic, with males marking more frequently than females. In males a subpopulation of high frequency and low frequency markers was observed in gerbils with brown or black coat color. The present study examines the possibility that this marking frequency difference is genetically determined. After eight generations of selective inbreeding of brown gerbils to maximize the incidence of high marking males, no change in the ratio of high to low marking males was observed. When less common black gerbils were mated with brown gerbils in classic F1 X F2 crosses, a ratio of 3 brown to 1 black resulted, suggesting that black coat color was a Mendelian recessive trait. Marking behavior measured in the offspring of F1 X F2 crosses over five generations revealed significantly higher average marking frequencies in black males than in heterozygous or homozygous brown males. This difference was due to a smaller percentage of low markers among black males than among brown males. Females from these crosses showed no marking frequency differences. Plasma testosterone levels and ventral scent gland size were not different among low or high markers in either black or brown males. These results suggest that there is an androgen-independent genetic component to the expression of territorial marking behavior in the gerbil.

Animals↗
PubMed1994

[The effect of the pleiotropic action of single-locus (pp) and dual-locus (aapp) mutation of mink fur color genes on serotonin metabolism in the brain].

Specific features of serotonin (5-hydroxytryptamine, 5-HT) metabolism were studied in the brain of mutant sapphire minks, homozygous at genes determining silver-blue and Aleutian fur color (ppaa), and silver-blue minks (pp) in comparison with the standard-colored minks (++/++). In the midbrain of sapphire mutants, the activities of tryptophan hydroxylase (TPH) and monoamine oxidase (MAO), key enzymes of 5-HT biosynthesis and catabolism, were significantly higher; an increase in the 5-HT level was statistically nonsignificant due to considerable variation in this parameter; and the level of 5-hydroxyindole-3-acetic acid remained unchanged. A similar increase in TPH and MAO activities was also found in the midbrain of silver-blue pp minks, suggesting that activation of key enzymes of 5-HT metabolism in sapphire aapp minks is associated with the mutant alleles pp.

Animals↗
PubMed1985

Testicular function and pelage color have different critical daylengths in the Djungarian hamster, Phodopus sungorus sungorus.

Testicular function and pelage color are regulated by photoperiod in the Djungarian hamster. To investigate the critical daylengths of these functions, adult male hamsters were exposed to one of four photoperiods: 16 h of light, 8 h of darkness (16L:8D), 14L:10D, 12L:12D, or 10L:14D. 10L:14D and 12L:12D induced the winter molt and testicular regression, in contrast to 14L:10D which induced only the latter response, and 16L:8D which maintained the summer pelage and large testes. Melatonin injections administered 4, 2, or 0 h before lights-off to hamsters exposed to 16L:8D mimicked the effects in hamsters exposed to 10:14D, 12L:12D or 14L:10D, respectively, on pelage color and testicular weight. Based on previous observations, the elevated circulating melatonin levels resulting from these injections were expected to extend the endogenous melatonin peak. Thus, this finding suggests that the duration of circadian melatonin elevation is the critical parameter determining its effect not only on the gonads, but also on the pelage. Since 14L:10D induced testicular regression but not the winter molt, this study also investigated whether circulating FSH levels, known to affect testicular function, and PRL levels, which have been shown to affect pelage color, might be affected differently by 14L:10D. Both FSH and PRL levels were found to be suppressed in 14L:10D hamsters compared to those in 16L:8D hamsters, although the interval between the initial decrease and eventual recovery was less than that in 10L:14D hamsters. Thus, the differential responses of the pelage and gonads to 14L:10D do not appear to be based on selective suppression of FSH in this photoperiod. However, different responses to 14L:10D compared to 10L:14D may be related to the shorter period of suppression of both PRL and FSH by the 14L:10D daylengths.

Animals↗
PubMed1987

Effects of the nonagouti pelage-color allele on the behavior of captive wild Norway rats (Rattus norvegicus).

The objective of the present study was to determine the extent to which the nonagouti pelage-color allele influences selected behaviors (including docility) of the wild Norway rat. Agouti and nonagouti (black) littermates were compared in tests for handling, open-field behavior, platform jumping, and response to a novel food item, all of which clearly differentiate wild and domestic rats. Nonagouti rats were significantly easier to approach, capture, and handle than their agouti sibs. However, differences between agouti and nonagouti rats for the other variables studied were not significant. Although the presence of the nonagouti allele cannot fully account for the behavioral differences between wild and domestic Norway rats, it may have facilitated the domestication of this species by improving ease of handling.

Alleles↗
PubMed1996

[Reproduction of the water voles (Arvicola terrestris) polymorphic for the aguti locus].

Reproduction of three coat-color genotypes:brown, AA (homozygotes for the wild type agouti allele); melanic, aeae (homozygotes for the autosomal recessive extreme nonagouti allele); and black-brown, Aae (heterozygotes)-in the water vole was investigated under laboratory conditions. Nine possible kinds of crosses were identified. The Aae and aeae females had higher fertility than brown AA females, while males of all three group displayed similar fertility. AA and aeae females started breeding earlier and bore larger litters. Unlike melanic females, heterozygous females had stable high fertility indices independent of male genotype. In the melanic form, female receptivity, litter size, and postnatal viability of offspring were the highest in the (aeae x AA) crosses, which resulted in exclusively heterozygous progeny.

Alleles↗
PubMedDate not supplied

[Functional characteristics of the adrenals in the ontogeny of male water voles Arvicola terrestris with various fur colorings].

Studies have been made of the effect of colour mutations on the adrenal function in growing male voles. In postnatal life, the level of 11-oxycorticosteroids in the blood exhibited similar changes in brown (wild phenotype) and black (mutant) voles. The highest level was found in 1-2-month animals; a decrease took place to the 6th month which was followed by a secondary increase at the age of 8 months. Corticosteron production in vitro is the highest in brown males 5-month. In black voles, after 2 months the production remains unchanged, being rather high. In 5-, 6- and 8-month voles, corticosteron production in vitro increased, but not decreased after prior incubation. In mutant voles, the adrenals are more sensitive to stimulating effect of ACTH (5 units per 1 g of the adrenals) and inhibitory effect of estradiol (40 ng/100 mg) in vitro.

11-Hydroxycorticosteroids↗
PubMed1984

Hormonal regulation of the annual pelage color cycle in the Djungarian hamster, Phodopus sungorus. II. Role of prolactin.

This study investigated whether photoperiod-induced changes in circulating prolactin levels, which have been observed in the Djungarian hamster ( Yellon and Goldman, '83; Duncan and Goldman, ' 83a ), might be involved in seasonal pelage color changes in this species. Injection of ovine prolactin (100 micrograms/day) inhibited the short photoperiod-induced winter molt. This finding indicated that the suppression of endogenous prolactin levels normally occurring in short photoperiod-housed hamsters (Duncan and Goldman, ' 83a ) may induce the winter molt. Suppression of prolactin secretion with bromoergocryptine (200 micrograms/day) strongly inhibited the spring molt, while concomitant treatment with ovine prolactin (100 micrograms/day) overcame this effect of bromoergocryptine. Injection of bromoergocryptine (200 micrograms/day) stimulated the winter molt in castrated hamsters housed in long photoperiod; concomitant injection of prolactin (100 micrograms/day) reversed this effect as well. These findings strongly suggested that an increase in endogenous prolactin levels may be necessary for the development and maintenance of the summer pelage.

Animals↗
PubMed1994

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons.

Defects in the gene encoding the endothelin-B receptor produce aganglionic megacolon and pigmentary disorders in mice and humans. We report that a targeted disruption of the mouse endothelin-3 ligand (EDN3) gene produces a similar recessive phenotype of megacolon and coat color spotting. A natural recessive mutation that results in the same developmental defects in mice, lethal spotting (ls), failed to complement the targeted EDN3 allele. The ls mice carry a point mutation of the EDN3 gene, which replaces the Arg residue at the C-terminus of the inactive intermediate big EDN3 with a Trp residue. This mutation prevents the proteolytic activation of big EDN3 by ECE-1. These findings indicate that interaction of EDN3 with the endothelin-B receptor is essential in the development of neural crest-derived cell lineages. We postulate that defects in the human EDN3 gene may cause Hirschsprung's disease.

Amino Acid Sequence↗
PubMed1990

Transgene-induced mutation of the murine steel locus.

The product of the steel locus is essential for normal development of three distinct populations of stem cells--the neural crest-derived melanoblasts, germ cells, and blood cell precursors. Many mutant alleles at steel are lethal in homozygotes and produce coat color dilution in heterozygotes. We have identified a transgenic mouse with diluted pigmentation that closely resembles that of steel heterozygotes. We have demonstrated that the site of transgene insertion is genetically linked to the phenylalanine hydroxylase locus on mouse chromosome 10. In addition, the chromosome carrying the transgene fails to complement the recessive lethality of the Sl allele of steel and the pigmentation defect of the Slpan allele. The data indicate that the inserted transgene has disrupted the steel locus. The resulting allele, designated Sltg, provides a molecular tag for isolation of the steel gene, as well as a new allele for characterization of this developmentally important locus.

Animals↗