Russian Journal of Genetics

Genetic and genomic studies of aggressive behavior are of great interest both for clinical medicine, which is related to treatment of patients with various forms of personality and psychiatric disorders, and for forensic purposes, in particular, for prognostication of different types of crime. Moreover, genetic research of aggressive behavior has major importance in connection to social and familial relationships, dealing with relations to children in society and family. Numerous studies have been published in this field. The present review describes studies on the genetic basis of aggressive/antisocial behavior, genome wide associations, and meta-analyses. The problems of genotype–social environment interaction and epigenetic mechanisms of genotype implementation in humans are discussed.

This article attempts to outline the current impact that genetics is having on the fields of archaeology and historical linguistics across the Eurasian continent. It positions the relationship between all three disciplines by reviewing the earlier history of their interactions. In the area of archaeology, there has been a long history of research into the subject of human migration. We briefly review the application of such techniques as craniometry, pigmentation, dermatoglyphics, classical markers and the retrospective reconstruction of population movements from the modern DNA of human populations. We then turn to the revolution created by the application of ancient DNA in three separate areas: Early Man dispersals and legacies, the spread of agriculture and the massive expansion of populations during the Early Bronze Age. Examples are provided of how aDNA is impacting on the study of the origin and dispersals of ethno-linguistic groups. In addition to human migrations, genetics is also impacting on the reconstruction of past lifeways and examples are drawn from research on palaeodiet, palaeopathology and palaeodemography. Genetics is also contributing to major issues of historical linguistics involving the origins and dispersals of the major Eurasian language families. It provides evidence that helps distinguish between instances involving significant migration from those effected by language shift with a minimal genetic trail. Two cases, the Proto-Indo-European and the Proto-Altaic homelands are reviewed along with some of the methodological problems of synchronizing genetic and linguistic evidence.

Genomic imprinting is an epigenetic mechanism that leads to parent-specific gene expression. A number of imprinted genes have been identified in humans and mice but fewer genes have been described as imprinted in pig. In the study, 59 porcine candidate imprinted genes were obtained by bioinformatics analysis. Among them, Grb10, Slc22a3 and Slc22a18 were selected for molecular cloning and expression pattern analysis. And, single-nucleotide polymorphism-based methods were performed to identify their imprinting status. We found that Grb10 and Slc22a18 were imprinted in pig and their differentially methylated regions were further determined by bisulfite sequencing PCR. With this work we advance the field of genomic imprinting by expanding the list of imprinted genes in pig and demonstrate a feasible and effective method to characterize imprinted genes in mammalians.

Sheep were one of the first animals to be domesticated. The history of sheep domestication and their widespread distribution dates to about ten thousand years ago, during which sheep exhibit both physical changes and modifications at the genetic level. The authors developed a system of 49 oligonucleotide primers for targeted Next Generation Sequencing (NGS) of genetic loci for phylogenetic analysis and identifying economically useful traits. Altogether, NGS libraries were prepared and sequenced on an Illumina MiSeq platform(Illumina) for 48 samples, for 40 of which it was possible to determine phylogenetic lineages: 28 belonged to haplogroup B, 10 to haplogroup A, and one sample each to haplogroups C and D. Study of the genes associated with economically useful traits revealed the samples with nucleotide substitutions in the MC1R gene leading to black coat color: two samples with c.218T>A, one with c.361G>A, and two with both substitutions simultaneously, as well as one sample with the substitution in the GDF8 gene associated with muscle hypertrophy and one with the substitution in the TYRP1 gene associated with brown coat color. The data obtained confirm a high genetic diversity of sheep from ancient southwestern Siberia and the utility of targeted sequencing for the study of ancient DNA samples.

The objective of this study was to examine associations of single nucleotide polymorphisms, rs1045642 within the MDR1 gene and rs1799930 within the NAT2 gene, with the risk of colorectal cancer (CRC) in the population of Central Russia. DNA specimens were obtained from 178 patients with CRC (87 males and 91 females) and 327 age-matched healthy controls (179 males and 148 females). Genotyping was performed using real-time PCR. Association of the studied SNPs with the risk of CRC was evaluated using logistic regression analysis. It was demonstrated that MDR1 rs1045642 polymorphism was associated with the increased risk of CRC after correction for gender, age, and smoking (OR = 1.41, 95% CI = 1.09–1.83; P = 0.008). A gender-stratified analysis showed that MDR1 rs1045642 was associated with the increased risk of CRC only in females (OR = 1.62, 95% CI = 1.11–2.35; P = 0.01). In males, no association between MDR1 rs1045642 and CRC was found. Association between MDR1 rs1045642 and the increased risk of colorectal cancer in Russian females from Central Russia was revealed.

Wilson’s disease (WD) is an autosomal recessive disease caused by an excessive accumulation of copper. The molecular genetic etiology of the disease is due to impairment of the ATP7B gene encoding copper-transporting ATPase. The spectrum and frequencies of mutations in the ATP7B gene are reported in the present study. The analysis was performed via allele-specific ligation for the search for frequent mutations, via massive parallel sequencing for the search for rare nucleotide substitutions, and via Multiplex Ligation-dependent Probe Amplification (MLPA) for the analysis of the copy number of all exons in the ATP7B gene. This study summarizes the findings from 431 DNA samples of patients with a preliminary diagnosis of Wilson’s disease analyzed for pathogenic ATP7B variants. DNA samples of 1000 unexamined individuals from different regions of the Russian Federation were used to estimate population frequencies. The spectrum of mutations in the ATP7B gene was determined in patients from Russia. A total of 66 different variants of the nucleotide sequence in the ATP7B gene were revealed, including 42 previously described pathogenic variants and 24 primarily identified ones. The most frequent pathogenic ATP7B variant in the Russian population of patients with Wilson’s disease was missense mutation c.3207C>A present in 50% of mutant alleles. Pathogenic variants c.2403insC, c.3204delC, c.3036insC, and c.3190G>A were also found to be more prevalent. The expected number of patients with Wilson’s disease in the studied sample was 208 of 431 individuals. The cause of the disease was established in 78% of patients with hepatolenticular degeneration. The carrier frequency of Wilson’s disease was found to be 1 per 50 individuals from Russia (confidence interval from 1 : 42 to 1 : 63). The calculated frequency of the disease is 1 per 10 000 individuals from Russia (confidence interval from 1 : 8333 to 1 : 12 500).

Ubykh people inhabited the area of what now is Greater Sochi, one time being neighbors of the Abkhaz and Adyghe. In 1864, after the Caucasian War, a small group of Ubykh survivors migrated to Turkey. The Ubykh language is a branch of the Northwest Caucasian (Abkhazo-Adyghe) languages, which is either placed in the Abkhaz or Adyghe subgroup or distinguished in a separate subgroup, according to various classifications. All this makes Ubykhs an important but genetically unexplored part of the gene pool of the Caucasus population. We collected an exclusive sample (N = 36) of Ubykh individuals, mainly from their diaspora in Turkey. Application of a high resolution panel of Y-chromosome markers (59 SNP and 17 STR) revealed the major West Caucasus haplogroup G2 (75% of the Ubykh population) and pan-Eurasian haplogroup R1a (19%). Within the G2 haplogroup, we identified 14 branches and genotyped 14 branch-defining markers. The frequencies of the same 14 markers in 19 other populations of the Caucasus were included for comparison. Both the genetic distances and the gene geographical map of the most frequent subhaplogroup (defined by the YY1215 marker at the GRCh37 position 8903699, comprising 50% of the Ubykh sample) revealed similarity of the Ubykh and Adyghe populations. Other Abkhaz-Adyghe-speaking populations appear to be at a greater genetic distance from the Ubykhs, similar to the distance to the Turkic-speaking groups of the North Caucasus. The Ossetian gene pool has little in common with Ubykhs, thus contradicting the hypothesis of the Alanian substrate in Ubykhs. Other populations of the Caucasus and Transcaucasia (of Nakh-Daghestanian and Kartvelian linguistic groups) do not show apparent genetic similarities to Ubykhs.

For many years, methods based on the molecular analysis of conservative genome segments have been used to solve controversial issues of phylogeny by calculating the divergence of organisms. In the present study, a marker fragment of the 12S rRNA gene was used to clarify the phylogenetic position of a poorly studied faunistic group, ancient leech-like parasites of the genus Acanthobdella. The mosaic combination of oligochaete (Oligochaeta) and modern leech (Hirudinea) traits points to the intermediate evolutionary position of acanthobdells. Our results suggest that the 12S marker fragment is efficient for phylogenetic analysis at the genus and species levels. The phylogenetic history of acanthobdellids reconstructed in the present study is not consistent with the results of earlier studies. Low statistical support suggests that the 12S marker is not efficient for phylogenetic analysis at the supergenus level.

The role of genetic susceptibility to the development of lymphoma is confirmed by the accumulating data on common genetic variants of the genes involved in lymphomogenesis. The varieties of disease variants, as well as the small effect of each of the polymorphisms, require the analysis of these markers in individual histological lymphoma subtypes in haplotype groups. This study was carried out to analyze the frequencies of rs1042522, rs1625895, and rs17878362, their triple haplotypes, and linkage disequilibrium in patients with diffuse small B-cell lymphoma and a control group. The absence of pronounced linkage disequilibrium between the rs17878362, rs1042522, and rs1625895 markers of the TP53 gene in the population control sample was revealed. At the same time, data on significant linkage disequilibrium between rs1625895 and rs1042522, as well as rs1625895 and rs17878362, and on moderate linkage disequilibrium between rs17878362 and rs1042522 in the group of patients with lymphoma were obtained. An association of the haplotype wArgG in the homozygous state with a predisposition to the development of diffuse small B-cell lymphoma was found.

The effect of E. colicyoA and cydA mutations that diminish the activity of bo' and bd-I terminal oxidases, respectively, on the lifespan of C. elegans nematodes was examined. It was demonstrated that the mean lifespan of the nematodes feeding on the cyoA and cydA mutants increased by 15.5 and 12.8%, respectively. It is known that cyoA and cydA mutants are characterized by the increased level of reactive oxygen species production. It is suggested that the lifespan extension in C. elegans is determined by moderate oxidative stress that occurs in the nematode organism upon culturing on these mutant bacteria.