Polyglucosan body disease in a mixed-breed dog.

AIM: To describe the histopathology of a previously unrecorded canine disease and deduce the cause of the lesions. METHODS: Formalin-fixed tissues were processed into paraffin wax and epoxy resin for light and electron microscopy of variously stained sections of liver, brain, heart muscle and kidney. RESULTS: Periodic acid Schiff (PAS) -positive bodies in liver and myocardium were typical of a polyglucosan body disease. Neurons contained coarse granular material that stained similarly to the polyglucosan bodies. CONCLUSION: The nature, distribution and histochemistry of lesions observed are consistent with a putative diagnosis of Glycogen storage disease type IV, an inherited metabolic defect associated with a deficiency of glycogen-branching enzyme not previously reported in dogs.

Chromosomal assignment of 311 sequences transcribed in human adult testis.

A total of 311 expressed sequence tags (ESTs) derived from human adult testis have been assigned to human chromosomes by Southern analysis of a monochromosome somatic cell hybrid panel. Over 70% of the ESTs show conservation to hamster and mouse DNA, and the overall distribution of transcripts correlates well with physical chromosome size and to a greater extent with male meiotic chromosome length. The notable exception is the X chromosome, for which the number of testis-derived ESTs is greatly underrepresented. This finding may reflect inactivation of the X chromosome during the meiotic phase of spermatogenesis and a consequent selection against large numbers of X-linked germ cell transcripts. Further analysis of the distribution of testis ESTs showed that the EST density remains significantly correlated with the recombination density of each autosome. Analysis of a comparable number (320) of brain EST autosome assignments showed no similar correlation. These data suggest a specific association between transcription in testis tissue and male meiotic recombination.

Expression analysis, genomic structure, and mapping to 7q31 of the human sperm adhesion molecule gene SPAM1.

During the course of systematic sequence tag analysis of clones isolated from an adult testis cDNA library, clones 296 and 576 were found to detect 71-74% sequence identity to the guinea pig sperm surface protein PH-20. This surface protein is involved in sperm-egg adhesion in the guinea pig. Nucleotide sequence for 1919 bp of human DNA from a series of overlapping cDNA clones isolated from a testis cDNA library confirmed the sequence identity within a 1527-bp open reading frame to be 71-74% to the guinea pig gene and the similarity to be 60% for the predicted protein of 509 amino acids. Southern blot analysis of human genomic DNA and DNA from somatic cell hybrids indicates that the gene (SPAM1) is unique and does not form part of a larger family and that it maps to chromosome 7. Fluorescence in situ hybridization with yeast artificial chromosome (YAC) clones isolated from the CEPH megaYAC library has refined this localization to 7q31. PCR analysis of genomic DNA and YAC clone DNA has shown that the 1919 bp of the gene that has been cloned covers approximately 11 kb of genomic DNA and is encoded by at least 4 exons. Northern analysis of poly(A)+ mRNA from a range of 16 human tissues has demonstrated that expression of the gene as a single 2.4-kb transcript is strictly limited to the testis.

Lipofuscin in bovine muscle and brain: a model for studying age pigment.

Pigment of brown atrophy of bovine muscle was interpreted as an exacerbation of age pigment accumulation that also occurred in brain. Isolated muscle pigment was able to be solubilised in LDS/beta-mercaptoethanol and found to be composed mainly of protein and lipid. The widespread "assumptive" hypothesis that age pigment reflects insoluble products of lipid/protein peroxidation is questioned. The methodology described allows for further in-depth analyses to test this and other hypotheses based on alternate models of protease resistant protein/lipid complexes of limited solubility.

A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin.

Contiguous arrays of yeast artificial chromosomes (YACs) extending from proximal heterochromatic Yq into the pseudoautosomal portion of the Y chromosome and separated by a small interval at the centromere have been constructed. A total of 97 YACs have been aligned along the Y chromosome by STS content analysis using 222 sequence tagged sites (STSs) that detect 263 loci. Forty-five of the STSs used are novel. Their inclusion provides a significant improvement over previously available maps on the density of STS coverage along the Y chromosome, reducing the average spacing to 120 kb assuming a length of 30 Mb for the euchromatin. The average size of 61 YACs determined by pulsed-field gel electrophoresis analysis was at least 0.9 Mb. Minor differences noted between the ordering of STSs on this map compared with those previously reported may be attributed to inherent polymorphism between the Y chromosomes used to construct the YAC libraries.

Immature teratoma of the ovary with gliomatosis peritonei. A case report.

Gliomatosis peritonei is a rare complication of immature teratoma of the ovary and should not be confused with metastatic ovarian carcinoma. Treatment depends on the histological grading of the gliomatous lesions. All grades, except grade 0, qualify for adjuvant chemotherapy. Repeated laparotomies for cytological sampling and the removal of tumour are essential. A 16-year-old Ovambo nulligravida presenting with gliomatosis peritonei was apparently cured after 5 laparotomies for removal of tumour and 13 courses of combination chemotherapy.