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Biomedical subjects

D J Prieur

Publications and source records attributed to D J Prieur.

107 records · Page 6Linked to original sources
PubMed1974

Lysozyme deficiency-an inherited disorder of rabbits.

A genetic disorder of rabbits consisting of a deficiency of the enzyme lysozyme is characterized. The condition appears to be inherited as an autosomal recessive trait. Most of the tissues of lysozyme-deficient rabbits including bone marrow, liver, lung. spleen and bone had levels of lysozyme which were 1% or less of the levels in the corresponding tissues of normal rabbits when measured with the lysoplate method. Levels of lysozyme in the kidney and serum were 6% of controls, but the thymus of the lysozyme-deficient rabbits had normal levels of the enzyme. All leukocytes of the lysozyme-deficient rabbits were negative for lysozyme when examined by a histobacterial technic. No morphologic lesions could be detected in any of the tissues of the lysozyme-deficient rabbits. Although several species of animals have been reported to be lysozyme deficient, this appears to be the first report of lysozyme deficiency occurring as a mutant condition. It is suggested that these mutant rabbits may be useful as a resource for experiments designed to delineate the biologic role of lysozyme.

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PubMed1972

Defective function of renal lysosomes in mice with the Chediak-Higashi syndrome.

Morphologically abnormal lysosomes demonstrated in individuals with the Chediak-Higashi syndrome (CHS) suggested a defect in the function of these abnormal lysosomes. To gain direct experimental evidence of such a defect, horseradish peroxidase (HRP) was injected intravenously into CHS and control mice, the mice killed at varying intervals and the kidneys studied by ultrastructural cytochemistry. No morophologic difference was observed in the absorption and uptake of HRP by proximal convoluted tubules in the two groups of mice. In CHS mice, however, some of the HRP fused with enlarged lysosomes. By 48 hours after injection, the lysosomes of normal mice had digested all but trace amounts of HRP, whereas large amounts were still present in CHS mice at this time. In CHS mice, moderate amounts were still present at 72 hours and trace amounts 96 hours post injection. This slowed rate of digestion of HRP by lysosomes of the proximal convoluted tubule cells of CHS mice suggests a similar defect in all cells in CHS individuals in which there is a lysosomal degradation of protein or other matter obtained by endocytosis. Such a defect may explain some manifestations of impaired host defense observed in CHS.

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PubMedDate not supplied

Arlee line of rainbow trout (Oncorhynchus mykiss) exhibits a low level of nonspecific cytotoxic cell activity.

Nonspecific cytotoxic cell (NCC) activity was assessed in the peripheral blood of four isogenic lines of rainbow trout (Oncorhynchus mykiss) which were derived by the chromosome set manipulation technique of androgenesis. In these fish, whose isogenicity was previously confirmed by multilocus DNA fingerprint analysis, NCC activity was studied by the release of 51Cr from YAC-1 targets. Two groups of trout (the homozygous Arlee 12 line and the heterozygous hybrid of the Arlee 63 and Arlee 12 lines) had significantly lower levels of NCC activity in peripheral blood than either outbred rainbow trout or other lines with Hot Creek or hybrid Arlee x Hot Creek ancestry. The low NCC activity in the Arlee line appears to be inherited as a recessive trait. Peripheral blood cells of the trout mediated lectin dependent cellular cytotoxicity (LDCC) with the addition of phytohemagglutinin to co-cultures of effector cells and YAC-1 cells. The low NCC activity in the peripheral blood of these fish is not due to a condition analogous to the NCC-deficient Chediak-Higashi syndrome of man or the beige mutation of mice.

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PubMedDate not supplied

Genetic studies of a muscular dystrophy of mink.

Analysis of breeding data revealed that the muscular dystrophy trait in a pedigree of mink is transmitted in an autosomal recessive manner. Variation in skeletal muscle fiber diameter size is the most pronounced and consistent change in the dystrophic mink. Other changes include centralization of nuclei, degenerative change, increase in endomysial and perimysial connective tissue, and regenerative attempts. These changes are not present in known heterozygotes.

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PubMedDate not supplied

Inheritance of lysozyme deficiency in rabbits.

The phenotypes of 273 offspring of 56 matings of various genotypes of lysozyme-deficient and normal New Zealand white rabbits were analyzed. It was determined that lysozyme deficiency of rabbits is inherited as an autosomal recessive with complete penetrance. The symbol ld is suggested for the gene for lysozyme deficiency. Further studies on the nature of the condition revealed that the lysozyme deficiency was not due to a lysozyme that was cold labile, or to a lysozyme that was so tightly bound it was unavailable for enzymatic assay, or to a lysozyme with a variant pH optimum. It was demonstrated, however, that the pH profile of the lysozyme remaining in the ld/ld rabbits was different from that found in normal rabbits.

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PubMedDate not supplied

Inheritance of the Chediak-Higashi syndrome in cats.

The phenotypes with respect to the Chediak-Higashi syndrome (CHS) of 245 cats from 67 matings were analyzed. It was determined that the gene for feline CHS, like that in other species with CHS, is inherited in an autosomal recessive manner with complete penetrance. We propose the symbol ch for the gene for CHS in cats. Additional studies revealed enlarged periodic acid-Schiff positive granules in renal tubule cells in CHS cats, which provides further evidence of the homologous nature of CHS among the various species in which it occurs.

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PubMedDate not supplied

Morphologic basis of inherited coat-color dilutions of cats.

The melanin granules in hair of black, smoke, blue, Chediak-Higashi-smoke, and pink-eyed dilution cats were studied. The hair of black cats contains numerous small dark brown to black melanin granules uniformly distributed throughout all portions. The basis for the dilution in smoke cats is a paucity of melanin granules in the basal portions of the hair. Blue cat hair has a larger basic melanin granule, some very large but relatively regularly shaped granules, and a non-uniform distribution of granules. The granules in the blue cat hair resemble those in the hair of dilute mice. The Chediak-Higashi trait causes even larger basic melanin granules than the blue dilution and enlarged and relatively irregularly shaped granules. The melanin granules in the hair of the pink-eyed dilution cat are very small, and are yellowish brown compared to the dark brown to black of those of black, smoke, and blue cats.

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PubMedDate not supplied

Maltese dilution of domestic cats. A generalized cutaneous albinism lacking ocular involvement.

The Maltese dilution is an autosomal recessive trait of cats that dilutes black cats to blue, and orange cats to cream. The pigmented cutaneous and ocular tissues of Maltese dilution and control cats were examined and compared by light microscopy. Most of the melanin granules in all of the pigmented cutaneous tissues of the Maltese dilution cats were aggregated together into large clumps. However, none of the intraocular tissues containing melanin producing cells of either neural crest or optic cup embryologic origin contained clumped melanin granules. It is concluded that the Maltese dilution trait is a unique generalized albinism without ocular involvement.

Albinism↗
PubMedDate not supplied

Inheritance of congenital myasthenia gravis in smooth fox terrier dogs.

The phenotypes with respect to congenital myasthenia gravis of 132 smooth fox terrier dogs from 25 matings were analyzed. These included both prospective and retrospective matings. It was determined that congenital myasthenia gravis in the smooth fox terrier dog breed is inherited in an autosomal recessive manner with complete penetrance. We propose the symbol mg for the gene for congenital myasthenia gravis in the smooth fox terrier. Attempts to maintain live affected dogs to adulthood were unsuccessful and it is concluded that this is a lethal trait.

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PubMedDate not supplied

Genetics of the fawn-hooded rat strain. The coat color dilution and platelet storage pool deficiency are pleiotropic effects of the autosomal recessive red-eyed dilution gene.

The inheritance of coat color, hooded-coat pattern, and platelet storage pool deficiency of fawn-hooded rats was studied by crossing fawn-hooded rats with rats of other strains. It was determined that the tan coat color and the platelet storage pool deficiency were pleiotropic effects of the autosomal recessive red-eyed dilution (r) gene. The hooded-coat pattern was determined to be the effect of a different autosomal recessive gene. It also was demonstrated that the tan coat color of fawn-hooded rats is a dilution and that the shade of the tan coat color expressed varied with the underlying coat color genes.

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PubMedDate not supplied

Inheritance of an ovine lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase.

Prospective and retrospective genetic studies were performed on sheep with a recently described inherited lysosomal storage disease that involves a profound deficiency of beta-galactosidase and an associated deficiency of alpha-neuraminidase. Retrospective studies of the flock of sheep in which four affected lambs were born indicated little inbreeding but the presence of a common ram in both the maternal and paternal sides of the pedigrees. When unrelated rams were used in the flock in subsequent years, no affected lambs were born. The affected lambs' parents were phenotypically normal, so the disease was investigated as a putative autosomal recessive condition in prospective breedings of related sheep over two breeding seasons. For the third breeding season, heterozygous ewes were superovulated and bred to a heterozygous ram, and the resultant embryos were transferred to recipient ewes. Later in the same breeding season, the heterozygous ewes were re-bred naturally to the heterozygous ram. Lambs were identified as affected by the development of signs of ataxia, levels of beta-galactosidase that were less than 7% of the levels in controls by spectrofluorometric assay, or the histopathologic demonstration of vacuolization of neurons. Heterozygous sheep were identified by the production of affected offspring and/or by levels of beta-galactosidase in fibroblast cultures that were approximately 50% of control levels. The phenotypic ratio of affected sheep to normal sheep and the genotypic ratio of affected to heterozygous to normal sheep were consistent, by chi-square analysis, with an autosomal recessive trait. It was concluded that this ovine lysosomal storage disease is an autosomal recessive disease.

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PubMedDate not supplied

Clinical and clinicopathologic characteristics of ovine GM-1 gangliosidosis.

Ovine GM-1 gangliosidosis is an inherited lysosomal storage disease. Nine lambs affected with the disease were studied to characterize clinical signs and to determine if there were any pathognomonic clinicopathologic abnormalities. Evaluation included physical, ophthalmic, and neurologic examinations, complete blood counts, serum enzyme and electrolyte analyses, urinalyses, cerebrospinal fluid analyses, blood gas analyses, roentgenograms, electromyograms, and electrocardiograms. Two affected lambs had clinicopathologic tests performed before and after the onset of clinical signs. The only consistent abnormalities recognized were nonspecific signs referable to the central nervous system; predominantly ataxia, conscious proprioceptive deficit most severe in the hind limbs, blindness, and recumbency. Lambs continued to eat and drink, though at diminished levels and with loss of body condition. It was concluded that there are no pathognomonic clinicopathologic abnormalities associated with ovine GM-1 gangliosidosis, and antemortem diagnosis requires enzyme assay of leukocytes or cultured fibroblasts, or lectin histochemistry of tissues obtained by biopsy. Lysosomal storage diseases should be considered among the differential diagnoses in young animals presenting with early neonatal death or with nonspecific neurological signs, in concert with an absence of diagnostic clinicopathologic findings.

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