卷 60, 编号 2 (2024)

The majority of cultivated cereals including maize, rice, wheat, barley, oat and rye are consisted of numerous varieties lacking anthocyanin pigmentation or having weak coloration of vegetative organs and/or caryopses. Only rare local races and wild related species have intense coloration of plants and/or grains. The coloration of caryopses is associated with the biosynthesis of colored flavonoids in maternal (pericarp and testa) and hybrid (aleuron) caryopsis tissues. The trait is controlled by dominant alleles of regulatory genes encoding conserved transcription factors of the MYB, bHLH-MYC, and WD40 families forming the MBW protein complex. Recent studies have proven the participation of uncolored and colored flavonoids in the response of plants to biotic and abiotic stresses, and significance of their presence in the whole grain foods has been determined. However, many questions about the adaptive effects and health benefits of anthocyanins remain unanswered. In particular, the reasons why the dominant alleles of regulatory genes controlling pericarp coloration did not become widespread in the course of domestication and breeding of cereals are not clear, although these genes receive special attention in association with health-improving effects of grain nutrition. This article discusses the similarity and specificity of the genetic control of the biosynthesis of flavonoids in the caryopsis in three related cultivated cereals – wheat, barley and rye, and their biological role in the development of the caryopsis and seed germination.

Genetic diversity and phylogenetic relationships of Oxytropis species from the section Verticillares were studied based on nucleotide polymorphism of cpDNA intergenic spacers psbA-trnH, trnL-trnF, and trnS-trnG at the center of the section origin (Baikal Siberia and adjacent territories of South Siberia, Mongolia, and China). Moreover, at the first time the reconstruction of phylogenetic relationships of species from section Verticillares based on the analysis of ITS nrDNA has been performed. The paper summarizes new samples and new data for unstudied species and populations. 84.4% populations of 11 species are characterized by a high level of chloroplast haplotype diversity (h varies from 0.700 to 1.000). The majority of populations (71.9%) have high haplotype diversity with low nucleotide diversity. Three haplogroups revealed in the genealogical network of chlorotypes indicate that there are different evolutionary pathways of the species included in these groups: divergence of genetically isolated taxa in the zone of sympatry presumably on the base of ecological specialization; incomplete lineage sorting with preserving of ancestral polymorphism in combination with hybridization of weakly diversified taxa; allopatric divergence and polyploidization. Analysis of markers of chloroplast and nuclear genomes testify the rapid adaptive radiation of Oxytropis section Verticillares.

Previously, numerous studies have shown a broad pleiotropic effect of the dominant allele of the scaly cover gene N. Carriers of this allele are inferior to recessive nn homozygotes in terms of growth rate and viability, and also differ in a number of physiological and meristic traits. In the present work, a case of the absence of pleiotropy was found: when scaleless females (ssNn) and males with scattered scale cover (ssnn) were crossed, naked and scattered offspring did not differ in growth rate, viability, and hematological parameters. The pleiotropic effect of the N gene was preserved only in terms of meristic characters. The absence of a negative effect of the N gene on productivity traits opens up the possibility of using naked carps in aquaculture.

Genetic structure of Karachai population has been studied based on analysis of 10 autosomal DNA markers (diallelicand multiallelic): CCR5∆32, ACE, D7S23(KM19) STR/THOI, STR/FABP, STR/IVS6a, VNTR/PAH, VNTR/DAT1, VNTR/eNOS VNTR/APOB. The total number of sample makes up 485 individuals who are residents of five Karachai regions: Karachaevsky, Prikubansky, Malokarachayevsky, Ust-Dzhegutinsky and the city of Cherkessk, the capital of the Republic of Karachaevo-Cherkessia. Analysis of allele’s frequency of autosomal DNA markers in Karachay geographic subgroups shows considerable genetic differentiation between them. The highest level of genetic diversity for Karachay people on dialle system is set at the locus ID/ACE, H_obs = 0.513, on multi-allele system isat the locus STR/THOI, H_obs = 0.792. The average value of the observed heterozygosity per locus is 0.466, varying from 0.441 in Ust-Dzhegutinsky to 0.503 in Cherkessk. The level of genetic differences between Karachai groups (F_ST = 0.007) is inside the variance defined in the previously studied peoples, Mari (F_ST = 0.0024), Udmurt (F_ST = 0.0048), Chuvash (F_ST = 0.006), Tatars (F_ST = 0.0075) and Bashkir (F_ST = 0.008).

The polymorphism of the rs174570, rs74771917, and rs7115739 FADS-gene loci in Siberian populations was studied. It was shown that the frequency of the rs174570-T variant marking haplotype A with a reduced level of fatty acid desaturase expression in the modern indigenous populations increases in the direction from the south to the north of Siberia. Similarly, an increase in the frequency of the TTT haplotype at the rs174570, rs74771917, and rs7115739 loci was observed in the northern direction. However, in ancient times, the populations of Eastern Siberia (its northeastern part, Baikal region, and Primorye) were characterized by an equally high frequency of the rs174570-T variant (over 80%). It was shown that the main influx of the rs174570-C allele (and the CCG haplotype) to northeast Siberia occurred relatively recently, over the past 300 years, as a result of mating contacts between indigenous populations and immigrant groups of predominantly eastern European origin. The gene flow intensity (for the rs174570-C allele) is estimated to be 1.5-4.4% per generation. The appearance of the rs174570-C variant in the population of the Baikal region has been registered since the Eneolithic epoch, which is apparently associated mainly with the advance of the Afanasievo culture tribes to the east of Siberia. Meanwhile, analysis of paleogenomic data showed that the TTT haplotype, with high frequency distributed in modern Eskimos and Amerindians, was present in the upper Paleolithic population of the Amur region, and therefore its carriers apparently took part in the formation of the ancient Beringian population.

Dairy cattle breeding is aimed at improving the productivity, mainly through the use of a limited number of breeding bulls. As a result, an increase in inbreeding is observed causing accumulation of heterozygotes-carriers of recessive lethal mutations. A rise in the number of carriers reduces the profitability of dairy farms, since the frequency of embryonic and post-embryonic mortality increases, and the fertility of cows decreases. This paper presents the results of the development of test systems for rapid and inexpensive diagnostics of genetically determined cattle diseases that are significant for animal husbandry, namely for Holstein haplotypes 3, 6 and 7. The diagnostic technology is real-time PCR using TaqMan probes. Carriers of the Holstein haplotype 3 were not found in any of the studied populations. The carrier frequencies for HH6 and HH7 were 0.95 and 1.92%, respectively. Carrier frequencies are consistent with the results of studies worldwide, however, it is worth noting that only few large-scale screening studies have been carried out, since causative loci have been mapped relatively recently.

Schizophrenia is now known to be a multifactorial disease in which both genetic and environmental factors play a role. In recent years, mainly through the use of genome-wide association studies (GWAS), many molecular genetic processes have been identified that increase susceptibility to schizophrenia. The aim of this study was to study genetic risk factors for the development of schizophrenia in a genome-wide association analysis (GWAS) in Bashkirs from the Republic of Bashkortostan. The studied sample consisted of 139 patients with paranoid schizophrenia and 204 healthy individuals. Whole genome genotyping of DNA samples was carried out on the PsychChip biochip, which included 610,000 single nucleotide polymorphic variants (SNPs).