Frequency of Gc alleles and a variant Gc allele in Iceland

The gene frequency for Gc1 and Gc2 in an Icelandic population was found to be 0.71 and 0.29, respectively. An electrophoretic variant similar to Gc Norway was detected in 5 individuals of the same family. A pedigree of 14 family members, including two spouses, is presented.     

A new hereditary single band variant of the Gc system

Summary A new single band variant (Gc Ar) or the Gc subtypes not identical with the known Gc variants has been detected in the plasma of a healthy blood donor by isoelectric focusing. Using this technique the variant is represented by a single band which has a similar isoelectric point to the Gc 1C2 anodal band. It is well known that the single band Gc phenotypes remain unaltered after neuraminidase treatment. Nevertheless, the new single band variant (Gc Ar) is altered after neuraminidase treatment as is Gc 2A3. After neuraminidase treatment, the Gc Ar band is affected and moved to the nearby position of the Gc 2 band. Investigation of the proband's family shows that the variant occurs combined with the common alleles Gc 1F, Gc 1S and that it has an autosomal dominant inheritance.     

C4A7: a new variant of human complement C4

A rare variant of complement C4 was found in 2 related individuals. It has the most anodic mobility found to date, no hemolytic activity detected by the overlay technique and a Bgl II RFLP pattern very similar to that of the C4A6 type.     

Tyrosinosis: a new variant

Abnormalities of tyrosine metabolism are discussed under four headings: (1) accumulation of tyrosine and its metabolites secondary to severe liver damage, vitamin C deficiency, etc.; (2) transient neonatal tyrosinemia; (3) hereditary tyrosinosis with hepatorenal dysfunction where elevation of tyrosine and methionine levels in the plasma may be a secondary manifestation of an unknown disease process; and (4) “essential tyrosinemia” or tyrosinosis without hepatorenal dysfunction which may represent a kkrimary fault in the metabolism of tyrosine.A new case of tyrosinosis without hepatorenal dysfunction in a 13-year-old mentally retarded girl is reported. Clinical findings, laboratory investigations and results of dietary management and normalization of the plasma tyrosine level and of urinary metabolites are presented and compared with the features of three similar cases in the liteature. It is suggested that these cases represent “essential tyrosinemia” where there is a primary genetic defect in tyrosine metabolism.     

PI Scologne: a new variant in the alpha-1-antitrypsin system

Summary The detection of PI Scologne, a rare variant in the alpha-1-antitrypsin system, by means of isoelectric focusing is described.     

Alpha 1 antitrypsin M1: a new common genetically determined variant.

A new common variant (M1) of alpha 1 antitrypsin was detected by isoelectric focusing of serum in a pH gradient of 3.5-5.0 in polyacrylamide gels. The variant can be clearly distinguished from the common M type only when alpha 1 antitrypsin M is present in the same serum. It cannot be recognized on starch gel electrophoresis. The gene frequency in a population sample of United States whites was .09.     

There are two major types of hepatitis C virus in Japan

The polymerase chain reaction (PCR) was used to detect hepatitis C virus (HCV) in plasma from chronic non-A, non-B hepatitis patients. By choice of adequate primers, 19 of 24 samples (79%) were found positive. Sequence analysis of amplified 400 bp cDNA fragments encoding a portion of NS5 gene suggested that HCV can be classified into two types (named K1 and K2) in Japan. Slot blot hybridization of the fragments indicated that 13 were HCV-K1 and 6 were HCV-K2, which show 80% and 67% nucleotide sequence homology, respectively, with that of the prototype.     

Population study of apolipoprotein A-IV polymorphism and report of a new variant in Japanese

Genetic variants of human apolipoprotein A-IV (ApoA-IV) were investigated in 614 healthy Japanese individuals. The allele frequencies were estimated as ApoA-IV*1 = 0.9984 and ApoA-IV*2 = 0.0016. In addition, a new variant ApoA-IV*Tokyo was observed in a paternity material.     

Cholinesterase Newfoundland: a new succinylcholine-sensitive variant of cholinesterase at locus 1.

A family from Newfoundland was found to have a new rare variant for plasma cholinesterase (E.C.3.1.1.8) recognized by a high-percentage inhibition by dibucaine (DN), particularly when succinyldithiocholine was used as substrate (DNSDTC) but also somewhat high when benzoylcholine was substrate (DNBZCH). The family data demonstrated that the variant is determined by an allele of the usual and atypical alleles at locus 1, and the new allele is designated CHE1*NFLD. The proband who was heterozygous for the Newfoundland and atypical alleles had shown sensitivity to succinylcholine. It is postulated that cholinesterase Newfoundland (NFLD) has a reduced affinity for succinylcholine. Samples selected for high DNs with a benzoylcholine from 200 Canadian Caucasians and 70 Newfoundlanders did not have the variant, and, therefore, it is assumed that the remainder of the samples did not have the variant.     

Seasonal occurrence and distribution of myxomycetes on different types of leaf litter in a warm temperate forest of western Japan

The seasonal occurrence and distribution of myxomycetes on different types of newly defoliated leaf litter were examined in a secondary forest in a warm temperate region of western Japan. The two types of leaf litter (deciduous trees, Prunus verecunda and Quercus variabilis, and evergreen trees, Q. glauca and Cinnamomum camphora) were incubated in trays on the forest floor. A total of 45 myxomycete species were recorded from 3021 collected samples that occurred at the July peak during the warmest and humidest season from April to November. The occurrence of species was significantly related to the changes in mean temperature and minimum temperature on both leaf types under humid conditions. Myxomycete assemblages were divided into three seasonal phases. Most of the species occurred in June–September, while a few species demonstrated characteristic distributions; i.e., Didymium melanospermum appeared in April– May and Diderma umbilicatum appeared in October– November. The respective leaf types supported the reproduction of myxomycetes with high species richness and diversity, with 34 species and H’ = 2.59 on deciduous trees and similarly 30 species and H’ = 2.49 on evergreen trees. Several species, however, exhibited a preference for either the deciduous tree or evergreen tree leaves. Thus, a mixed forest that defoliates during different two seasons yields a greater species diversity of myxomycete assemblage.     

Ceramide-1-phosphate sugars: new types of glycophospholipids

Ceramide-1-phosphate sugars were synthesized by direct glycosyl phosphite/phosphate andO-glycosyl trichloroacetimidate/phosphate exchange reactions, respectively. Thus, ceramide-1-O-phosphoric acid 5 gave with sialyl phosphite1 as sialyl donor directly -linked sialyl phosphate6; deprotection afforded the corresponding glycophospholipid ceramide-1-phosphateN-acetylneuraminate7. Similarly, fromO-glucosyl- andO-galactosyltrichloroacetimidate10 and13 with phosphoric acid derivative5 glycosyl ceramide-1-phosphate sugars12 and15, respectively, were obtained.     

Caspase-1zeta, a new splice variant of the caspase-1 gene

Five alternatively spliced mRNA isoforms of human caspase-1 have been identified previously and we report here the cloning of a new isoform, named CASP1 zeta (zeta), from human ovarian surface epithelial cell cDNA. The new isoform zeta is identical to the alpha isoform but missing 79 nucleotides in the coding region of the prodomain of procaspase-1. Analysis of the cDNA sequence of the zeta isoform revealed an ORF of a shorter protein missing the 39 amino acids at the amino terminal of procaspase-1alpha, which comprises the important caspase activating recruitment domain (CARD), which is required for interactions between caspases and other proteins. Secondary structure analysis of procaspase-1 CARD predicted the truncation of the alpha1, the alpha2, and part of the alpha3 helix in the zeta isoform in comparison to the full-length alpha isoform. The new zeta isoform was expressed in many, but not all, adult human tissues by RT-PCR. In HEK293 cells, transient overexpression of wild-type caspase-1zeta induced apoptosis to levels similar to those of caspase-1alpha. However, mutational change at the caspase-1 active center of the Cys 246 of caspase-1zeta, as well as Cys 285 of caspase-1alpha, completely abolished their apoptotic activity. Our findings suggest that caspase-1zeta is a widespread, new proapoptotic isoform of caspase-1. They also demonstrate that the first 39 amino acids of the N-terminal of the CARD in procaspase-1 are not required for its apoptotic activity.     

Early life history of a catadromous sculpin in western Japan

To clarify the early life history of Cottus kazika (Cottidae), the ontogeny, osteology, distribution, migration and food habit were examined based on larvae and juveniles collected from coasts and estuaries in western Japan. The sequence of fin completion was pectoral (P1)-dorsal soft-ray part (D2)-anal (A)-dorsal spine part (D1)-pelvic (P2). However, that of calcification was P1-P2-D1-D2-A. Larvae and juveniles of C. kazika are distinguished from those of coastal sculpins of Japan by large preopercle spines, conspicuous parietal spines, the large and densely pigmented pectoral fin and the relatively deep body. C. kazika and Myoxocephalus polyacanthocephalus plus Enophrys bison share these four ontogenetic characters. From the relationship between the growth ring count on the sagittae and total length, the size of embryos at hatching is estimated at 5.2 mm. Larvae are estimated to reach 7 mm in 10 days, 9 mm in 20 days and 11 mm in 30 days after hatching. Hatching dates for larvae collected in the Shimanto estuary in 1987 peaked during the period around the new moon in January. Many free embryos ranging from 4.3 to 5.9 mm were collected using an aqualamp at a rocky shore outside the Yura River mouth, at high salinity (> 33 ppt), but none were collected in the estuary. From beach samples, seasonal changes in body size varied from year to year, and no consistent growth pattern was found, although juveniles were generally larger in late March and April than in January and February. Very few larvae were collected along shorelines where there were no adjacent rivers. Food habit of larvae and juveniles changed with growth. Polychaete larvae, cladocerans and copepods were found in preflexion larvae less than 6 mm. Gammarids were one of the important food items for larvae over 6 mm. Juveniles over 12 mm almost exclusively fed on gammarids. In the Shimanto estuary, larvae and juveniles stayed near the river mouth in January and February, within a stagnant layer where temperature and salinity remained about 12 °C and 20 ppt, respectively. Juveniles tended to move in March when the stagnant layer disappeared in the estuary.     

UCHL1 S18Y variant is a risk factor for Parkinson's disease in Japan

ABSTRACT: BACKGROUND: A recent meta-analysis on the UCHL1 S18Y variant and Parkinson's disease (PD) showed a significant inverse association between the Y allele and PD; the individual studies included in that meta-analysis, however, have produced conflicting results. We examined the relationship between UCHL1 S18Y single nucleotide polymorphism (SNP) and sporadic PD in Japan. METHODS: Included were 229 cases within 6 years of onset of PD, defined according to the UK PD Society Brain Bank clinical diagnostic criteria. Controls were 357 inpatients and outpatients without neurodegenerative disease. Adjustment was made for sex, age, region of residence, smoking, and caffeine intake. RESULTS: Compared with subjects with the CC or CA genotype of UCHL1 S18Y SNP, those with the AA genotype had a significantly increased risk of sporadic PD: the adjusted OR was 1.57 (95% CI: 1.06 to 2.31). Compared with subjects with the CC or CA genotype of UCHL1 S18Y and the CC or CT genotype of SNCA SNP rs356220, those with the AA genotype of UCHL1 S18Y and the TT genotype of SNP rs356220 had a significantly increased risk of sporadic PD; the interaction, however, was not significant. Our previous investigation found significant inverse relationships between smoking and caffeine intake and PD in this population. There were no significant interactions between UCHL1 S18Y and smoking or caffeine intake affecting sporadic PD. CONCLUSIONS: This study reveals that the UCHL1 S18Y variant is a risk factor for sporadic PD. We could not find evidence for interactions affecting sporadic PD between UCHL1 S18Y and SNCA SNP rs356220, smoking, or caffeine intake.