Genetic demographic study of Shors in Tashtagolskii raion of Kemerovo oblast: Changes in the marriage migration structure

The changes in the marriage structure with respect to the age at marriage, ethnicity, and spouses’ birthplaces during the period of time corresponding to two generations have been analyzed in the rural population of Shors of Tashtagolskii raion of Kemerovo oblast. In general, the Shor population had a high assortative marriage rate with respect to these parameters in the period studied, although there was a temporary tendency to wards its decrease. The ages of marriage for both the male and the female Shor populations in the years 2000–2005 were significantly older than in 1940–1945 and 1970–1975. The age-assortative marriage rate was r = 0.60 in 1940-1945, r = 0.73 in 1970–1975, and r = 0.66 in 2000–2005. The birthplace-assortative marriage rate decreased from 79.63% in 1970–1975 to 70.64% in 2000–2005. The ethnic assortative marriage rate of Shors steadily decreased during the time interval studied; it was 96.92, 89.95, and 80.98% in 1940–1945, 1970–1975, and 2000–2005, respectively, for the total rural population of Tashtagolskii raion.     

Population structure of rural settlements of Sakha Republic (Yakutia): Surname structure

The distributions of surnames have been studied in 12 rural ethnic territorial groups of Sakha Republic (Yakutia). The populations studied are characterized by considerable accumulation of individual surnames, the surname spectra of representative of different ethnic groups living in the same area substantially overlapping. The random isonymy, migration index, surname diversity, and the surname distribution redundancy index display geographic and ethnic differences. The isonymy relationship coefficients calculated for representatives of individual ethnic groups (Yakuts, Evens, and Russians) and for total populations of the settlements studied are determined by the geographic distances between the compared populations and the intensity of migrations.     

Mapping the amino acid properties of constituent nucleoporins onto the yeast nuclear pore complex

Visualization of molecular structures aids in the understanding of structural and functional roles of biological macromolecules. Macromolecular transport between the cell nucleus and cytoplasm is facilitated by the nuclear pore complex (NPC). The ring structure of the NPC is large and contains several distinct proteins (nucleoporins) which function as a selective gate for the passage of certain molecules into and out of the nucleus. In this note we demonstrate the utility of a python code that allows direct mapping of the physiochemical properties of the constituent nucleoporins on the scaffold of the yeast NPC׳s cytoplasmic view. We expect this tool to be useful for researchers to visualize the NPC based on their physiochemical properties and how it alters when specific mutations are introduced in one or more of the nucleoporins. The code developed using Python is available freely from the authors.     

Antagonistic effects of chronic low frequency stimulation and thyroid hormone on myosin expression in rat fast-twitch muscle

This study investigates effects of chronic low frequency stimulation (CLFS) on myosin heavy (MHC) and light chain (MLC) expression in fast-twitch muscles in hypothyroid, euthyroid, and hyperthyroid rats. The changes at both the mRNA and protein level indicated antagonistic effects of thyroid hormone and CLFS: under euthyroid conditions, CLFS mainly elicited a MHCIIb----MCHIId----MHCIIa transition. Whereas CLFS did not induce the slow MHCI in the euthyroid state, this isoform was present in the hypothyroid state and was further enhanced with CLFS indicating the suppressive effect of thyroid hormone to be stronger than the inductive influence of CLFS. Hyperthyroidism alone suppressed the expression MHCIIa and enhanced a MHCIId to MHCIIb transition. This shift to the faster MHC isoforms was only partially counteracted by CLFS. Thus, it appeared that thyroid hormone had a graded suppressive effect on the expression of MHC isoforms in the order MHCIId less than MHCIIa less than MHCI. Elevated neuromuscular activity partially counteracted these hormone effects. Changes in MLC mRNAs were consistent with those in the MHC pattern, i.e. increases or decreases in MHCIIb led to corresponding changes in the expression of MLC3f. A similar relationship existed for the slow MHCI and the slow MLC isoforms.     

Population genetic study of differential fertility in man (illustrated by habitual abortion). IV. Distribution of blood groups and frequency of incompatible marriages

Hereditary variation of 5 immunological systems coded by 8 loci was compared in 148 couples and 100 women with repeated spontaneous abortions in anamnesis (experimental group) and 141 couples and 100 women with normal fertility (control group). Marked differences in distributions of genotypes and frequencies of 3 systems (MNSs, Rhesus, Duffy) and frequency of AB0-incompatible couples were found between control and experimental groups. An average value of observed heterozygosity in experimental group was lower, as compared to the expected value. Possible influence of immunological factors on recurrent fetal wastage is discussed.     

Genetic and demographic characteristics of rural populations of Altaĭ republic: sex-age composition, surname and tribal structure

The sex, age, tribal, and surname compositions of the populations of three villages of Altai Republic, Kulada (Ongudaisk raion), Beshpeltir (Chemal raion), and Kurmach-Baigol (Turochak raion) have been studied. Altaian populations are characterized by a high proportion of persons under 20 years of age (35.3-46.1%); however, there is a tendency towards a narrow base of the sex-age pyramid. The sex ratios in the total populations and in individual age groups are unfavorable. The rural populations studied differ in the spectrum and pattern of surname accumulation. The Kurmach-Baigol population (which consists of Northern Altaians) considerably differs from the Beshpeltir and Kulada populations (which are mostly Southern Altaian) with respect to the calculated parameters characterizing the population structure (random isonymy, migration index, the parameter of tribe diversity, entropy, and the redundancy of surname distribution). Isonymy coefficients of relationship between individual populations have been calculated from the data on tribes (surnames). These coefficients for pairs of populations are the following: for the Beshpeltir and Kulada populations, 0.3035938 (0.0000443 and 0.0000378 for the Altaian and total populations, respectively); for the Beshpeltir and Kurmach-Baigol populations, 0.0026788 (0.0000172 and 0.0000121 for the Altaian and total populations, respectively); and for the Kulada and Kurmach-Baigol populations, 0.0054811 (no common surnames have been found).     

Genetic and demographic characteristics of rural populations of Altaĭ republic: dynamics of the marriage structure

The dynamics of population marriage structure in the period from 1951 to 1997 has been studied in three villages of Altai Republic: Kulada (Ongudaisk raion), Beshpeltir (Chemal raion), and Kurmach-Baigol (Turochak raion). These populations have been found to differ from one another in the intensity and direction of migration, as well a its temporal pattern with respect to the birthplaces and ethnicity of persons contracting marriages. Periods of active incorporation of non-Altaian (mostly Slavic) ethnic components into the gene pools of the Beshpeltir and Kurmach-Baigol populations have been detected. The geographic distributions of the birthplaces of men and women contracting marriages are different. Therefore, migration has different effects on the genetic diversity of the Y-chromosomal and mitochondrial-DNA pools. No isonymic marriages have been found in the Altaian populations studied; however, an increase in the random component of inbreeding has been observed.     

ACE and AGTR1 genes polymorphisms in left ventricular hypertrophy pathogenesis in humans

The role of A2350G polymorphism in exon 17 of the ACE gene and A1166C - in 3'-UTR of the AGTR1 in the pathogenesis of left ventricular hypertrophy was studied in patients with essential hypertension (EH) and arterial hypertension combined with diabetes mellitus type 2 (AH + DM2). Patients with EH and AH + DM2 did not differ from the control sample of healthy individuals by allele or genotype frequencies. However, an association of both polymorphisms with LVH was detected in EH patients. The frequency of 1166C allele was higher in patients with LVH (33.6% vs 20.7% without LVH). A1166C polymorphism determined the magnitude of left ventricular mass index (LVMI) in EH patients as well (p = 0.007). 2350G allele frequency of the ACE gene was in 1.5, and GG genotype--in 3.5-fold higher in EH patients with LVH, as compared without LVH. LVMI was significantly higher in patients with GG genotype as compared with heterozygotes and AA homozygotes (p = 0.002). Thus the presence of 1166C allele of AGTR1 and 2350G allele of ACE can be considered as predisposing factors for LVH development in EH. In contrast, association of studied polymorphisms with presence or LVH degree was not detected in patients with arterial hypertension combined with DM2. This may indicate another structure of genetic component of predisposition to LVH in different causes.     

Population-genetical study of differential fertility in humans (based on an example of habitual abortion). I. Approach to the problem and analysis of morpho-physiological and demographic traits

It was shown that women from the studied group of married couples, suffering from repeated spontaneous abortions (the main group), have earlier menarche and their husbands are taller, as compared with the control group of couples with normal reproductive performance. The degree of similarity between mates in age and stature appeared to be lower in the main group than in the control group. The variation of the characters under study is supposed to provide an auxiliary criterion in selecting couples at high risk of repeated spontaneous abortions.     

Evolutionary ontogenetic aspects of pathogenetics of chronic human diseases

This article is a review of scientific publications, in which issues of pathogenetics of multifactorial diseases (MFDs) are considered from the viewpoint of evolution and ontogeny. Concepts explaining significance of evolutionary processes in the formation of genetic architecture of human chronic diseases (“thrifty” genomes and phenotypes, “drifty genes,” decanalization) are analyzed. The roles of natural selection and genetic drift in the formation of hereditary diversity of genes for susceptibility to MFDs are considered. The modern concept of “disease ontogeny” (somatic mosaicism, loss of heterozygosity, paradominant inheritance, epigenetic variability) is discussed. It is demonstrated that the evolutionary and ontogenetic approaches to analysis of genimuc and other “-omic” data are essential for understanding the biology of diseases.