Showing papers in "Journal of Heredity in 1981"
2,356 citations
TL;DR: Shiverer is an autosomal recessive trait in the mouse characterized by early generalized tremors that become prominent in the hindquarters with age, and a deficiency of myelin and myelin basic protein in the central nervous system.
Abstract: Shiverer is an autosomal recessive trait in the mouse characterized by early generalized tremors that become prominent in the hindquarters with age. Seizure behavior begins after weaning and increases in frequency during the animal's shortened lifespan. The most prominent pathological feature is a deficiency of myelin and myelin basic protein in the central nervous system.
186 citations
TL;DR: White pollen in corn (in contrast to normal yellow) is determined by the double recessive condition for the anthocyanin factor c2 with a newly discovered factor, whp.
Abstract: White pollen in corn (in contrast to normal yellow) is determined by the double recessive condition for the anthocyanin factor c2 with a newly discovered factor, whp. The pigmentation is determined by the genotype of the sporophyte bearing the pollen rather than by the genotype of the pollen grain itself. Pollinations made with white pollen have been unsuccessful. Deposition of flavonoids in the pollen grain appears to be essential to normal pollen function.
139 citations
TL;DR: Progressive ankylosis, ank, a new recessive skeletal mutation causing a noninflammatory joint disease in mice is described, and preliminary observations suggest that three abnormal processes are involved: increased calcification of calcified cartilage and of joint tissues, hyperplasia of the cells and tissues of the joints, and degeneration within and around the tissues, tendons, and ligaments.
Abstract: Progressive ankylosis, ank, a new recessive skeletal mutation causing a noninflammatory joint disease in mice is described. Preliminary observations suggest that three abnormal processes are involved: increased calcification of calcified cartilage and of joint tissues, hyperplasia of the cells and tissues of the joints, and degeneration within and around the tissues, tendons, and ligaments of the joints. The new mutation is closely linked, with about 4 percent recombination, to underwhite on chr 15.
89 citations
TL;DR: A frequency of more than 10(-2) of the de novo appearance of piebald spotting (star) was established in silver-black foxes selected for domestic behavior, which cannot be adequately explained by selective embryonic mortality, differential zygotic and gametic death, or transgression of homozygous and heterozygous phenotypes.
Abstract: A frequency of more than 10(-2) of the de novo appearance of piebald spotting (star) was established in silver-black foxes selected for domestic behavior. The star phenotype is determined by the autosomal semidominant gene S. Ten genealogical groups of foxes, in which star arose independently, were analyzed. Of these, the star character is determined by S alleles in at least seven groups. The S gene is located in a linkage group other than the earlier described W (Georgian white) locus. The star gene is incompletely penetrant, but its penetrance is significantly higher in offspring from tame mothers than from aggressive ones, or when S is received from a heterozygous vixen (Ss). There was a notable shortage of homozygous (SS) offspring from Ss X Ss crosses, which cannot be adequately explained by selective embryonic mortality, differential zygotic and gametic death, or transgression of homozygous and heterozygous phenotypes. Some foxes, proven carriers of a homozygous (Ss) genotype, showed the phenotype and mode of inheritance characteristic of heterozygotes (Ss). Presumably, the mechanism responsible of these observations is a heritable functional activation-inactivation of the star gene. Some implications of this concept in terms of destabilizing selection are discussed.
84 citations
TL;DR: All of the chromosomes are similar in banding patterns; chromosome 1 of Swamp results from a telomere-centromere tandem fusion between two chromosomes identified as 4 p and 9, respectively, in the Murrah karyotype, thus accounting for the reduced diploid number of Swamp buffalo.
Abstract: Silver staining of Swamp buffalo (2n = 48) metaphase chromosomes revealed telomeric nucleolus organizer regions (NOR's) located on five pairs of autosomes identified by R-banding as numbers 4 p (submetacentric), 8, 20, 22, and 23 (acrocentrics); interphase nuclei also showed no more than five nucleoli. The Murrah buffalo (2n = 50) was previously reported to have telomeric NOR's located on six pairs, -3 p and 4 p (submetacentric), 8, 21, 23, and 24 (acrocentrics). By comparing the two types of buffalo it was concluded that: all of the chromosomes are similar in banding patterns; chromosome 1 of Swamp results from a telomere-centromere tandem fusion between two chromosomes identified as 4 p and 9, respectively, in the Murrah karyotype, thus accounting for the reduced diploid number of Swamp buffalo; the fusion causes the loss of NOR's on the telomeres of chromosome 4, thus accounting for the reduced number of NOR chromosome pairs of Swamp; the presence of a pale C-band are in the region of junction between chromosome 4 and 9 involved in the fusion suggests that the centromeric region of the later is retained and altered.
84 citations
TL;DR: The analysis revealed the existence of nine Robertsonian translocations not previously described and the Robertsonian variations in mice from Scotland and Spain are probably of independent origin and mostly likely also unrelated to the Alpine-Apennine system.
Abstract: Robertsonian translocations were found among mice captured on one of the Orkney islands in North Scotland, around Barcelona in Spain, and in Southern Germany around the cities of Tubingen and Ravensburg. Mice from Denmark, Poland, Astrachan in the Soviet Union Israel, and Egypt were found to be free of Robertsonian translocations. The Robertsonian variations in mice from Scotland and Spain are probably of independent origin and mostly likely also unrelated to the Alpine-Apennine system. On the other hand, the variation in mice from Southern Germany may be a part of the Alpine system. Hybrid zones were found near Barcelona and near Ravensburg. In the latter almost all the mice were heterozygous for at least one Robertsonian translocation, and often for several translocations. Three out of 14 typed mice were heterozygous for four metacentric chromosomes. The analysis revealed the existence of nine Robertsonian translocations not previously described: Rb(3.14)7Tu, Rb(4.10)8Tu, Rb(6.13)9Tu, and Rb(9.12)10Tu in Scotland; Rb(4.14)11Tu, Rb(6.10)13Tu, Rb(9.11)14Tu, and Rb(12.13)15Tu in Spain, and Rb(2.5)2Tu in Southern Germany.
67 citations
59 citations
TL;DR: Changes in sterility potential were less clear cut in those mixed populations that originally included neutral strain flies, but there was a tendency for the frequencies of sterility of the majority of PQ and QM mixed cultures to change in the same direction as for the P and M combinations.
Abstract: Two main types of Drosophila melanogaster strains have been previously described in relation to hybrid gonadal sterility: P (paternally derived) and M (maternally derived). When M strain females are mated with P strain males, cytoplasm-chromosome interactions result in variable frequencies of sterility in their hybrid progeny. A third neutral strain type, Q, generally has no significant potential for sterility in any hybrid strain combination. Mixed populations of these three types of strains were set up in various combinations and initial frequencies. They were subsequently maintained without artificial selection and monitored for their gonadal sterility and potential. All 24 mixed cultures initiated with P and M parents independently evolved rapidly towards a state of at least moderate P activity, which was maintained in succeeding generations. The M cytotype was not maintained after 10-20 generations except at very low frequencies. Changes in sterility potential were less clear cut in those mixed populations that originally included neutral strain flies, but there was a tendency for the frequencies of sterility of the majority of PQ and QM mixed cultures to change in the same direction as for the P and M combinations. The results are discussed in terms of conventional mechanisms of segregation and selection and in terms of an alternative hypothesis of chromosome contamination in which sterility factors may be transposed from P to M chromosomes, resulting in extremely rapid unidirectional population changes. Possible implications of these results for general models of the evolution of hybrid dysgenesis are explored.
55 citations
TL;DR: The DAM line appears to be a valuable animal model for vitiligo, as well as several melanin-related eye diseases, and all line associated traits appear to be controlled by multiple autosomal genes.
Abstract: A mutant line of chickens (DAM line) has been developed that is characterized by a high incidence of a spontaneous, postnatal, cutaneous amelanosis. Amelanotic individuals also have a high incidence of blindness and a low incidence of an integumentary defect expressed as a variable loss of feathers. A low incidence of hypothyroidism is also present but is not limited to the amelanotic phenotype. All line associated traits appear to be controlled by multiple autosomal genes. Selection experiments showed that the amelanosis and eye defect are highly heritable and partially share a common genetic basis. However, it also was shown that the incidence of blindness could be readily altered within the amelanotic population by selection. It is suggested that the blindness represents the most severe expression of the amelanosis syndrome. The amelanosis equally affected both sexes and both eumelanin and phaeomelanin pigments. A relationship was found between the presence of the back plumage color gene, E, and an increase incidence of feather amelanosis in segregating DAM line populations. This was not accompanied by an increase in blindness. The DAM line appears to be a valuable animal model for vitiligo, as well as several melanin-related eye diseases.
55 citations
TL;DR: The technique of biomicroscopic eye examination followed by breeding tests provides a new method for detection of dominant mutations in mice and 11 cataract mutations were found among 17,436 offspring of irradiated male mice.
Abstract: The technique of biomicroscopic eye examination followed by breeding tests provides a new method for detection of dominant mutations in mice. A total of 11 cataract mutations were found among 17,436 offspring of irradiated male mice. No cataract mutations were observed in 8,174 offspring from the control group. All mutations were phenotypically different. Of the 11 cataract mutations, 3 were semilethal in heterozygous condition, 7 were lethal in homozygous condition, and one presumed mutant was sterile. Seven mutations had complete penetrance whereas penetrance of three mutations was reduced. The rate of dominant mutations affecting an organ system in mice is of main importance for the quantification of the overall genetic damage due to dominant mutations in man.
TL;DR: Evidence was obtained indicating that Fu passes from a phenotypically active state to inactive: Fu in equilibrium with [Fu].
Abstract: The genetics of the fused (Fu) gene in the house mouse, Mus musculus, was studied by use of the closely linked recessive marker, tufted (tf). Evidence was obtained indicating that Fu passes from a phenotypically active state to inactive: Fu in equilibrium with [Fu]. These alternative states may be genetically transmitted. It is suggested that the activation of a "dormant" Fu gene may underlie this passage.
TL;DR: Dac is proposed as a symbol for the mutant gene, and mdac for the locus controlling the Dac expression, and the significance of the present findings explainable by a two-locus model is discussed relative to irregular mode of inheritance of certain other congenital defects, and also relative to the maintenance of genetic loads in populations.
Abstract: Dactylaplasia, characterized by the absence of phalangeal bones in the middle digits of each foot, resulted from a mutation that occurred in the SM7B/SM inbred strain of mice. Breeding tests revealed the mutant gene is an autosomal dominant that is homozygous lethal. Further investigation by outcrossing with a number of inbred strains showed that the manifestation of the mutant gene is controlled by another locus. At this locus are found two alleles: one, a dominant inhibiting dactylaplasia gene expression; the other, a recessive allowing the expression of the mutant gene. In each of the tested inbred strains, one or the other allele is present at this locus. We propose Dac as a symbol for the mutant gene, and mdac for the locus controlling the Dac expression. Mouse dactylaphasia closely resembles split hand/foot in man and in monkeys in gross morphology and mode of inheritance. The significance of the present findings explainable by a two-locus model is discussed relative to irregular mode of inheritance of certain other congenital defects, and also relative to the maintenance of genetic loads in populations.
TL;DR: Fragilitas ossium, fro, is an often lethal recessive mutation that was discovered in a randombred stock of mice after treatment with the chemical mutagen tris(1-aziridinyl) phosphine-sulphine.
Abstract: Fragilitas ossium, fro, is an often lethal recessive mutation that was discovered in a randombred stock of mice after treatment with the chemical mutagen tris(1-aziridinyl) phosphine-sulphine. The fro/fro mice have osteoporosis-bending and fracture of the long bones-that is associated with apparently normal cartilage growth. The roentgenological and pathological features are similar to those of the severe, often lethal recessive form of human osteogenesis imperfecta.
TL;DR: Because of the similarities in the expression of this disease in chickens and humans, the inheritance pattern determined for chickens may provide useful insights into that operating for so-called adolescent idiopathic scoliosis in humans.
Abstract: The genetics of an inherited form of scoliosis in chickens was studied to estimate the number of genes involved, whether they are autosomal or sex-linked, their degree of dominance and penetrance, and the heritability of this trait in this population. Expression of scoliosis and in the progeny was analyzed by radiographs of birds 12 weeks of age or older. Crosses between an inbred line selected for scoliosis expression (incidence of scoliosis - 89 percent) and a highly inbred line displaying normal spinal development provided data for genetic analyses. The incidence of expression of scoliotic parent line implicates three major autosomal, recessive genes. The significantly higher incidence of severe scoliosis found in the homogametic male sex is ascribed to a sex-influenced, on the scoliosis trait rather than to sex-linkage. Variation of expression observed in the scoliotic line is attributed to incomplete penetrance of the major genes, additive effects of minor modifying genes, and primarily to environmental effects. Because of the similarities in the expression of this disease in chickens and humans, the inheritance pattern determined for chickens may provide useful insights into that operating for so-called adolescent idiopathic scoliosis in humans.
TL;DR: The results suggest that the mode of inheritance of bovine polydactylism is polygenic, requiring a dominant gene at one locus and two recessive genes at another locus.
Abstract: Five breeding trials were conducted in an attempt to clarify the mode of inheritance of bovine polydactyly. Two trials involved polydactylous females, superovulation, embryo transfer, and early fetal recovery. The other three trials were father-daughter mating, mother-son mating, and polydactylous X polydactylous matings. The results suggest that the mode of inheritance of bovine polydactylism is polygenic, requiring a dominant gene at one locus and two recessive genes at another locus.
TL;DR: Distribution among strains including recombinant inbred (Rl) strains indicated the variation in these organs to be the same as the previously described in the liver as coded for by the Akp-2 locus.
Abstract: Differences between strains of mice were observed in electrophoretic migration on cellulose acetate plates of alkaline phosphatase in butanol extracts of kidney, bone and placenta. Each strain exhibited a broad band with fast or slow migration. Distribution among strains including recombinant inbred (Rl) strains indicated the variation in these organs to be the same as the previously described in the liver as coded for by the Akp-2 locus. An analysis of Rl strains for the kidney isozyme showed 43 with the faster moving form (AKP-2A), and 43 with the slower moving form (AKP-2B), and thus in the 1:1 ratio expected if a single locus is responsible for the strain differences. Comparisons of Rl strains showed linkage of the Akp-2 locus to two loci on chromosome 4 as follows: centromere-Gpd-1-5.7 +/- 1.9 cM-Akp-2-0.6 +/- 0.4 cM-Ahd-1. These data based on 82 Rl strains typed for both the first and second loci, and 86 for the second and third loci.
TL;DR: A total of 66 litters were farrowed in a Yorkshire herd of pigs selected for porcine stress syndrome (PSS) susceptibility, which included all possible combinations of matings between stress-susceptible, stress-carrier, and stress-resistant animals.
Abstract: A total of 66 litters were farrowed in a Yorkshire herd of pigs selected for porcine stress syndrome (PSS) susceptibility. These litters included all possible combinations of matings between stress-susceptible, stress-carrier, and stress-resistant animals. When the data were analyzed by within-litter chi-square analysis, the null hypothesis of recessive inheritance could not be rejected (P less than 0.05). In addition, when the data were analyzed across litters, the null hypothesis of autosomal recessive inheritance could not be rejected (P less than 0.05).
TL;DR: The development effects and inheritance of a new mutation in the mouse, head blebs, gene symbol heb, are described, which is similar to two other autosomal recessive mutations, eb and my.
Abstract: The development effects and inheritance of a new mutation in the mouse, head blebs, gene symbol heb, are described. This mutation is similar to two other autosomal recessive mutations, eb and my. Head blebs produces abnormal or missing eyes due to prenatal blebs, usually on the head, some fetal death, open eyelids, and folded retinas at birth. Extra toes or ectopic brains are occasionally observed. Affected adults usually have closed eyelids and atrophic eyes. Head blebs is located on chromosome 4, four units from pintail (Pt).
TL;DR: Six male and 134 female adult baboons were assigned to high or low lines on the basis of response of total serum cholesterol concentration to a high cholesterol, high saturated fat diet, and positive assortative mating of these breeders produced 36 high-line and 42 low-line progeny.
Abstract: Six male and 134 female adult baboons were assigned to high or low lines on the basis of response of total serum cholesterol concentration to a high cholesterol, high saturated fat diet. Positive assortative mating of these breeders produced 36 high-line and 42 low-line progeny, of which 30 high-line and 39 low-line progeny survived to one year of age. The mean serum cholesterol concentrations of the progeny produced in the two lines were significantly different at all ages from birth to one year. The serum cholesterol levels at birth were not strongly correlated with subsequent levels, but those after 3 weeks were highly correlated with one another. Heritability of total serum cholesterol concentration was estimated by realized heritability, correlation coefficients between parent and progeny values, and by regression coefficients of progeny values on mid-parent value. Estimates of heritability of serum cholesterol level at birth were low, but from 3 weeks to one year of age they ranged from 0.25 to 0.80 and averaged about 0.45. There was a correlated response of HDL and LDL cholesterol levels at one year to selection for total serum cholesterol.