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Biomedical subjects

S Mukai

Publications and source records attributed to S Mukai.

At least 163 records · Page 9Linked to original sources
PubMed1985

Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus.

Segregation of alleles at the L1.28 locus in members of four informative families with X-linked retinitis pigmentosa was consistent with linkage between the loci for L1.28 and X-linked retinitis pigmentosa. Linkage analysis showed that the best estimate for the recombination distance in these families is 10 centimorgans. When our data are combined with the previously published linkage data, we conclude that the genetic distance between the two loci is 5 centimorgans, or approximately 5 million base pairs of DNA, with a 90% confidence interval of 1.5 to 14 centimorgans.

Female↗
PubMed1985

Accuracy of detection of the retinoblastoma gene by esterase D linkage.

The gene for hereditary retinoblastoma (Rb), an autosomal dominant trait localized to the long arm of chromosome 13, is linked to the locus for the enzyme esterase D (EsD). We analyzed a three-generation family that demonstrates cosegregation of alleles at the EsD locus and the Rb locus. This kindred yields a logarithm of the odds ratio (LOD) score of 2.46 at a recombination fraction (0) of 0.0. When combined with five other recently reported families, the resulting maximum score was 11.08 at 0 = 0.0. This combined LOD score and the lack of demonstrable crossovers in more than 65 individuals indicate that predictions of the Rb gene carrier state based on EsD genotyping are at least 90% accurate.

Carboxylesterase↗
PubMed1984

Linkage of genes for human esterase D and hereditary retinoblastoma.

Determinations of esterase D isoenzymes in the members of a family with hereditary retinoblastoma gave results consistent with linkage between the loci for esterase D and retinoblastoma. This gene linkage allows the detection of gene carrier states in certain kindreds. We used this technique to predict that a 6-month-old boy carries the tumor-predisposing retinoblastoma gene.

Adult↗
PubMed1984

Cholesterol accumulation in adrenocortical mitochondria after ACTH-stimulation.

Rat adrenocortical cell suspensions (10(6) cells) were incubated with ACTH (40 nM) in 2 ml of Krebs-Ringer bicarbonate buffer for 90 min. About 42 nmol of corticosterone and 14 nmol of 18-hydroxydeoxycorticosterone were generated and released into the medium. Aminoglutethimide at 50 microM inhibited the steroidogenesis to 16%. Mitochondrial pellets were prepared from the cells incubated in the absence, or in the presence, of ACTH and aminoglutethimide, and cholesterol content was determined. The mitochondria of the cells incubated without the drugs contained 25.2 micrograms cholesterol/mg protein. Cholesterol content increased by 10% in the mitochondria of the ACTH-stimulated cells. The mitochondria of the cells incubated in the presence of both ACTH and aminoglutethimide contained 143% of cholesterol compared to those of the nontreated cells. When rats were subjected to ether stress after aminoglutethimide pretreatment, cholesterol content of the mitochondrial fraction increased to about 200% compared to that of the control rats. These results suggest that a cholesterol pool exists in the adrenocortical mitochondria and that the amount increases during the steroidogenic stimulation of the cells. The mitochondria were fixed with filipin-containing fixative and examined by freeze-fracture electron microscopy. Accumulations of filipin-cholesterol complexes were observed in the inner membrane of the mitochondria as protuberances or pits 25 nm in diameter.

Adrenal Cortex↗
PubMed1980

Effect of continuous darkness on diurnal rhythms in small vesicles in sympathetic nerve endings of the mouse pineal-quantitative electron microscopic observations.

Quantitative electron microscopic studies on the effect of continuous darkness on the diurnal rhythm of small vesicles in sympathetic nerve endings of the mouse pineal demonstrate that the numerical change of type 1 granulated vesicles, predominant small granulated vesicles, and non-granulated elliptical vesicles seen during the first half of the dark period under diurnal lighting conditions may persist for at least 14 days under continuous darkness. Furthermore, it is found that the alteration in the number of type 1 granulated vesicles and the total vesicle density observed during the light period under diurnal lighting conditions may be lost in mice kept in continuous darkness for 7 days. This result indicates that the type 1 granulated vesicles may be composed of two different populations of vesicles, i.e., granulated vesicles of population 1 and 2, and that the diurnal rhythm in the number of the granulated vesicles of population 1 may be abolished, while that of the granulated vesicles of population 2 may be maintained, under continuous darkness. The diurnal variation in the number of the type 2 granulated vesicles, which constitute a small population of small granulated vesicles, may persist in darkness. Thus, the diurnal rhythm in the number of small granulated vesicles in sympathetic nerve endings of the mouse pineal may be controlled by two different mechanisms, exogenous and endogenous.

Adrenergic Fibers↗