17 research outputs found
Study of Genetic Effects of Sulphur Mustard Gas on Former Workers of Ohkunojima Poison Gas Factory and Their Offspring
General health examination and one-dimensional electrophoretic examination to detect mutations at the protein level were conducted in order to elucidate potential genetic effects of sulphur mustard gas on children of the former workers of Ohkunojima Poison Gas Factory.
In the general examination, no disease which was definitely considered to be caused by genetic effects was observed, and no examination values obtained for the children proved to be significantly abnormal compared with those for their parents.
Blood samples from 456 children were electrophoretically examined for 30 protein systems. A total of 36 protein variants were detected in 10 protein systems, and the frequency of variants was 2.63 per 1,000 tests. Family study was completed for 32 of these variants, all of which were confirmed to be genetic variants. In 29,868 locus tests, mutation occurred in germ cells of parents could not be detected.
Among 36 variants, two PGM2 variants and one GPI variant were detected for the first time in this study
The frequency in Japanese of genetic variants of 22 proteins: V. Summary and comparison with data on Caucasians from the British Isles
The frequencies in Hiroshima and Nagasaki of rare variants (represented in less than 2 % of the individuals surveyed) is summarized for a series of 22 proteins (25 polypeptides). The average number of persons examined for each protein was 3312. There are three pairs of homologous proteins in the series: PGM, and PGM, CA I and CA 11, and HGB A and A,. Only for the first pair is there a significant difference between the two in the total frequency and number of different kinds of variants; it is suggested this may reflect differences in the mutation rates of the corresponding structural genes. For 23 of these polypeptides, comparable data are available for British Caucasians. The average frequency of variants for loci in common in the two series is 2.0/1000 person determinations for Japanese and 1.6/1000 for Caucasoids. At two loci (PGMl and PHI) there were significantly more variants in Japanese than in British; these two loci account for the greater average frequency of variants in Japanese. However, a conservative comparison of number of diflerent variants (electromorphs) encountered, using the 0 statistic of Ewens (1972), yields no significant difference for any of the 22 possible contrasts. The potential usefulness of data of this type in reaching conclusions regarding comparability of mutation rates in two populations is discussed. For the present, the fact that one electromorph may shelter multiple different amino acid substitutions in a protein limits the inferences to be drawn from such contrasts. It is 8 pleasure to acknowledge our indebtedness to Dr Peter Smouse and Dr Warren Ewens for statistical consultations, but responsibility for the tentative interpretations is entirely our own.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/66201/1/j.1469-1809.1978.tb00913.x.pd
Inherited thermostability variants of seven enzymes in a Japanese population
The frequency of inherited variations in thermostability was investigated in a series of seven enzymes in a Japanese population. Among a total of 5930 determinations, nine variants were encountered. In each instance one parent exhibited a similar finding. It is suggested that this procedure should detect a high proportion of the variants of these enzymes characterized by amino acid substitutions not altering molecular charge. Failure to detect more such thermostability variants is interpreted to mean that electrophoresis not only detects amino acid substitutions altering molecular charge but also a considerable proportion of those that do not alter charge.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/65570/1/j.1469-1809.1985.tb01671.x.pd
The frequency in Japanese of genetic variants of 22 proteins
This paper presents the results of an electrophoretic survey of approximately 4000 individuals from the cities of Hiroshima and Nagasaki, Japan, for four serum proteins: albumin, ceruloplasmin, haptoglobin and transferrin. The haptoglobin gene frequencies obtained for the HP 1 -HP 2 polymorphism are in agreement with earlier reports. Rare electrophoretic variants of albumin, ceruloplasmin and haptoglobin occur with frequencies of 2.48, 0.50 and 0.58 per 1000 determinations, respectively. The noteworthy finding of 8 distinct transferrin variants in these populations, with a combined frequency of 20.90 per 1000 determinations, is also presented. Four of these variants (D Ch1 , B 1 , B 3 and D hir2 which corresponds electrophoretically to D 4 ) have been reported in other populations in Japan, but the other five have not previously been differentiated.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/66399/1/j.1469-1809.1977.tb01859.x.pd
The frequency in Japanese of genetic variants of 22 proteins: IV. Acid phosphatase, NADP-isocitrate dehydrogenase, peptidase A, peptidase B and phosphohexose isomerase
This paper presents the results of an electrophoretic survey of approximately 4000 individuals from Hiroshima and Nagasaki for four erythrocyte enzymes: isocitrate dehydrogenase, pepti- dase A, peptidase B, and phosphohexose isomerase. Also reported are the results for erythrocyte acid phosphatase for a subset of these individuals. The frequencies for the ACPf and ACPF alleles of the ACP, locus are in agreement with previously reported results from Japanese populations. Rare variants of ICD, PEPA, PEPB and PHI occur with frequencies varying from 0.25 to 7.2 per 1000 determinations. The relatively high frequency of the PHI 4RIR1 variant and some unusual features involving the effect of reducing agent on the electrophoretic pattern behaviour of some of the rare PHI variants detected during this study are discussed.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/65914/1/j.1469-1809.1978.tb00912.x.pd
Electrophoretic variants of blood proteins in Japanese VI. Transferrin
A multiplicity of transferrin variants have been detected in the course of the biochemical aspect of the study of the genetic effects of atomic bombs. Variants obtained from the studies of 19,770 individuals in Hiroshima and Nagasaki were compared by polyacrylamide slab gel electrophoresis using three kinds of buffer systems with different pH values and thin layer polyacrylamide gel isoelectric focusing. The variants were compared on the basis of their relative mobilities and isoelectric points; seven types of fast-moving variant (B-variant) and nine types of slow-moving variant (D-variant) were detected, involving a total of 154 and 273 individuals, respectively. All the variants were identified as genetic variants by family studies. No variant differend inaallele frequency between the two cities. The variants detected in this study were compared with variants detected in residents of Mie district (another Japanese population), Caucasoids, American blacks, and Amerindians. Six additional types of B-variant and four additional types of D-variant, which had not been detected in Hiroshima and Nagasaki, were identified.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/41593/1/10038_2005_Article_BF01876469.pd
FOX MINUTE VIRUS-LIKE PARTICLE
Morphological investagations were carried out on basophilic intranuclear and cytoplasmic inclusion bodies in epithelial cells of the hair bulbs of anagen hair follicles in wild foxes affected with an abnormal hair coat condition. The inclusions, which were DNA-positive, contained numerous minute virus-like particles ("FMVP"). The particles, having a diameter of approximately 13 nm, had an arrangement of capsomer-like subunits of approximately 2-3 nm in diameter and were nonenveloped. The striking resemblance to icosahedral virus was crystallographically and morphologically demonstrated
Identification of Base Substitutions in Ten Types of Rare Variants of Phosphoglucomutase-1 (PGM1) Encountered in Japanese
In a previous starch-gel electrophoresis study of erythrocyte phosphoglucomutase-1 (PGM1) in 23,095 Japanese from Hiroshima and Nagasaki, we detected 14 types of rare variant alleles. To determine sequence differences in these rare alleles, cell lines were established from peripheral Blymphocytes from 24 unrelated individuals in whom nine types of rare variants are presumed to exist on the basis of earlier electrophoresis studies. cDNAs reverse transcribed from mRNAs extracted from these cell lines were amplified by polymerase chain reaction and sequences determined. Amino acid substitution types were deduced from each cDNA sequence. Although two individuals were reported to have an identical electromorph (PGM1 4HR3), sequence analysis revealed that alleles encoding these electromorphs possessed different base substitutions, and one was renamed PGM1 4HR4. As the amino acid substitution of ten different variants could be deduced by cDNA sequence in this study, the effect of each amino acid substitution on enzyme activity could be precisely simulated. The secondary structure of each variant predicted by computer simulations revealed that very decreased activity observed on PGM1 4HR2 protein was caused by significant secondary structure change introduced by the amino acid substitution. On the basis of the crystal structure, the amino acid substitutions of the ten types of rare variants seem to be outside the active center of this enzyme
Possible Involvement of Leaf Gibberellins in the Clock-Controlled Expression of XSP30, a Gene Encoding a Xylem Sap Lectin, in Cucumber Roots
Root-produced organic compounds in xylem sap, such as hormones and amino acids, are known to be important in plant development. Recently, biochemical approaches have revealed the identities of several xylem sap proteins, but the biological functions and the regulation of the production of these proteins are not fully understood. XYLEM SAP PROTEIN 30 kD (XSP30), which is specifically expressed in the roots of cucumber (Cucumis sativus), encodes a lectin and is hypothesized as affecting the development of above-ground organs. In this report, we demonstrate that XSP30 gene expression and the level of XSP30 protein fluctuate in a diurnal rhythm in cucumber roots. The rhythmic gene expression continues for at least two or three cycles, even under continuous light or dark conditions, demonstrating that the expression of this gene is controlled by a circadian clock. Removal of mature leaves or treatment of shoots with uniconazole-P, an inhibitor of gibberellic acid (GA) biosynthesis, dampens the amplitude of the rhythmic expression; the application of GA negates these effects. These results suggest that light signals perceived by above-ground organs, as well as GA that is produced, possibly, in mature leaves, are important for the rhythmic expression of XSP30 in roots. This is the first demonstration of the regulation of the expression of a clock-controlled gene by GA