Epigenetic inactivation of the <Emphasis Type="Italic">RB1</Emphasis> gene as a factor of genomic instability: A possible contribution to etiology of chromosomal mosaicism during human embryo development

The methylation status of the cell cycle control gene RB1 has been studied in placental tissues of spontaneous abortions of the first trimester of pregnancy with mosaic variants of numerical chromosomal abnormalities verified by a molecular cytogenetic examination. Aberrant methylation of the gene promoter region has been revealed for the first time in 20% of embryos with chromosomal mosaicism that died in utero. A maximum frequency of epimutations was recorded in a group of embryos with a low level of abnormal cells for which mitotic errors are most likely to determine the formation of mosaic aneuploidy in primary euploid zygotes. It has been suggested that aberrant epigenetic genomic modifications at early stages of human embryonic development can be one of the mechanisms promoting genomic instability realized in the form of mosaic abnormalities of the karyotype that are incompatible with the normal course of embryogenesis.     

Genetic Polymorphism of a Pelagic Fish Species,Little Baikal Oilfish <Emphasis Type="Italic">Comephorus dybowski</Emphasis>, Deduced from Analysis of Microsatellite Loci

Intraspecific genetic polymorphism of a Baikal Lake endemic, little Baikal oilfish (Comephorus dybowski Korotneff, 1905), was evaluated based on microsatellite analysis. Six microsatellite loci designed for the European sculpin, Cottus gobio, were used. Each locus was tested using 25 to 32 individuals from each of the Baikal basins (southern, middle, and northern). Analysis of genetic differentiation (F _ST and R _ST) revealed no statistical significant differences between the samples. The data showed that the target species was represented by a single panmictic stable population.__________Translated from Genetika, Vol. 41, No. 7, 2005, pp. 919–924.Original Russian Text Copyright © 2005 by Teterina, Sukhanova, Bogdanov, Anoshko, Kirilchik.     

Thermoresistance of Erythrocytes and Hemoglobin at Acclimation of the Rainbow Trout Salmo irideus

Changes of parameters of thermally induced hemolysis of erythrocytes and of thermal denaturation of hemoglobin were studied at acclimation of the rainbow trout Salmo irideus to seasonal changes of water temperature in the range of 0–20°C. A correlation was revealed between thermoresistance of erythrocytes, activation energy of thermal hemolysis, and water temperature variations, whereas thermostability of hemoglobin remained practically constant. The conclusion is made that seasonal changes of thermoresistance of erythrocytes are determined by rearrangements in membrane, which play adaptive role and are due to variations in lipid composition.     

Detection of Aneuploidy in Spontaneous Abortions Using Comparative Genomic Hybridization

Comparative genomic hybridization (CGH) technique was used to examine a set of ten spontaneous abortions whose cell cultures were characterized by the lack of proliferation in vitro, and thereby, were not available for the analysis by means of routine cytogenetic methods. Five abortions (50%) had aneuploidy of autosomes, including trisomy 10, 14, 18, and 21, and monosomy 22. The latter variant of unbalanced chromosomal abnormalities is rarely detected in spontaneous abortions by use of conventional cytogenetic methods. The results were validated by using fluorescent in situ hybridization (FISH) analysis with centromere-specific DNA probes. Embryos with trisomy 10 and monosomy 22 displayed mosaicism with the frequencies of abnormal cell clones constituting 68 and 33% respectively. The advantages and limitations of the applying of CGH technique for detection of genomic abnormalities in both nonmosaic and mosaic forms are discussed.     

C-polymorphism of chromosomes in men with azoospermia

Comparative evaluation of absolute C-segment lengths of chromosomes 1, 9, 16 and Y in 50 azoospermic males has revealed significant differences in chromosome 9 between 50 normal males. These results are considered as nonrandom in pathology of male gametogenesis.     

Tyrosine Decarboxylase and Dopa Decarboxylase in Drosophila virilis Under Normal Conditions and Heat Stress: Genetic and Physiological Aspects

The activity of tyrosine decarboxylase (TDC) and dopa decarboxylase (DDC) was studied in adults of two lines of Drosophila virilis,contrasting in their reaction to stress conditions. Differences were found in the activity of both enzymes between individuals of the examined lines. Genetic analysis of these differences was made. Each of the two enzymes was found to be controlled by a single gene or, possibly, by a block of closely linked genes. The gene responsible for TDC activity is located on one of the autosomes (excluding chromosome II). DDC activity in D. virilisis regulated by a gene located, apparently, on chromosome II. Adults of the line responding to stress by a stress reaction (r-line) were shown to react to a short-term heat stress (38°C, 60 min) by a decrease in TDC activity. TDC activity in flies of the line incapable of the stress reaction (nr-line) did not alter in such conditions. DDC activity of adults of both lines was found to be unchangeable under stress conditions.     

Traces of Genetic Subdivision in the Current Single Population of <Emphasis Type="Italic">Epischura chankensis</Emphasis> Rylov, 1928 (Copepoda,Calanoida) in Lake Khanka

The analysis of genetic polymorphism of Epischura chankensis from Lake Khanka, one of the key species of zooplankton, identified traces of geographical subdivision in the past in the current single population, probably owing to the formation of isolated reservoirs in the lake valley during its regression.