Organization of the mouse acid beta-galactosidase gene.

Overlapping murine genomic DNA fragments containing the entire cDNA sequence were isolated from a cosmid library prepared from the DBA/2J strain of mice. The gene is more than 80-kb long, consisting of 16 exons. All of the exon-intron boundaries have been defined.

Molecular cloning of mouse acid beta-galactosidase cDNA: sequence, expression of catalytic activity and comparison with the human enzyme.

A full-length cDNA coding for mouse lysosomal acid beta-galactosidase has been isolated on the basis of homology with the human gene. Catalytic activity toward 4-methylumbelliferyl beta-D-galactoside in the COS-1 cell expression system provided positive proof for its authenticity. The sequence analysis showed that the degree of similarity between the human and mouse enzymes was approximately 70% in the nucleotide sequence and nearly 80% in the amino acid sequence.

A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.

A new point mutation within exon 5 of beta-hexosaminidase alpha subunit gene (guanine509----adenine; arginine170----glutamine) has been identified as being responsible for the typical clinical and enzymological phenotype of infantile Tay-Sachs disease in a Japanese infant. Expression of the mutant enzyme protein in the COS I cell system indicated that it is catalytically inactive and also is unstable. The patient is a compound heterozygote, and the exact abnormality in the other allele could not be identified except that it is not any of the other nine known mutations of the beta-hexosaminidase alpha.

Dog liver glutathione S-transferase and its strong immunoreactivity with rat transferase-P(7-7).

Dog liver cytosolic glutathione S-transferases (GSTs) were investigated to characterize their properties in comparison with rat liver transferases. Dog liver GSTs after the glutathione affinity column chromatography showed three subunit bands on SDS-polyacrylamide gel electrophoresis. These three subunits, designated as Yd1 (mol.

Galactosialidosis: molecular heterogeneity in biosynthesis and processing of protective protein for beta-galactosidase.

Biosynthesis and processing of the protective protein for beta-galactosidase in normal and galactosialidosis fibroblasts were investigated using specific antiserum preparations. A 45-kd precursor was processed to a mature 30-kd protein in normal fibroblasts. The mature protective protein was not detected in any of the twelve galactosialidosis fibroblast strains examined in this study.

GM1-gangliosidosis: abnormalities in biosynthesis and early processing of beta-galactosidase in fibroblasts.

Biosynthesis and early processing of beta-galactosidase were analyzed by pulse-chase technique in human fibroblasts. In normal cells, an 84 kDa precursor was processed first to an intermediate form of higher molecular weight (88 kDa), and then to a 64 kDa mature enzyme. This intermediate form was detected also in the culture medium.

Galactosialidosis: a direct evidence that a 46-kilodalton protein restores deficient enzyme activities in fibroblasts.

The intracellular function of a specific protein to protect lysosomal beta-galactosidase and neuraminidase activities against proteases in human fibroblasts was studied. Beta-Galactosidase was purified from human placenta to different degrees; a preparation (A) contained also two concomitant proteins, and a highly purified preparation (B) contained only the mature beta-galactosidase. The protein concentrate of the culture medium of normal fibroblasts restored the activities of the deficient enzymes, beta-galactosidase and neuraminidase, in galactosialidosis cells.

Intracranial hemorrhage in the full-term neonate and young infant: correlation of the location and outcome.

The cranial computed tomography (CT) and outcome for 13 full-term neonates and 12 young infants with intracranial hemorrhage (ICH) were studied. The full-term neonates had perinatal asphyxia or neurological signs such as seizures. All infants were breast-fed and showed bleeding diathesis.