Genetika

The thyroid-stimulating hormone receptor (TSHR), one of the main autoantigens of the thyroid gland (TG), along with thyroglobulin and thyroid peroxidase, plays a key role in the metabolism of thyroid hormones, controls the growth and functions of thyrocytes. Due to the heterogeneity of etiology and pathogenesis, there are many functional disorders of the thyroid gland caused by hyperthyroidism, hypothyroidism or thyroid tumors. This analytical review systematizes data from 1993 on mutations in the TSH gene, identified in the genome of patients with hyperthyroidism, hypothyroidism or thyroid tumors, on various domains of the TSH receptor, which has a unique structure for this family of receptors.

The present study attempts to determine the contribution of repetitive DNA sequences to the formation of social structures in Apis mellifera honeybees. Despite progress in understanding the molecular basis of caste formation, particularly related to the Notch signaling pathway, the identification of genome-specific cis-regulatory elements remains incomplete. The present work focuses on characterizing the landscape of repetitive elements in the genomes of two honeybee subspecies, A. m. mellifera and A. m. ligustica. The study revealed that the increased copy number of mobile genetic elements in A. m. ligustica is a significant difference between the two subspecies. Furthermore, differentially expressed repetitive elements with the potential for cis-regulatory functions were identified. Concurrently, the analysis of the transcriptome showed minimal differences in the expression of mobile elements during caste differentiation, a fundamental process in the eusocial organisation of bees. Furthermore, the analysis of transposon divergence between subspecies indicated consistent changes in their repeat status correlating with time of origin. Taken together, the findings indicate a potential role of repetitive elements in the acquisition of new regulatory functions, which opens new perspectives for understanding the molecular mechanisms of honey bee social behaviour.

The tetraploid wheat of Militinae (Triticum militinae Zhuk. et Migusch.) has been considered by some researchers to be a natural naked mutant of the hulled wheat T. timopheevii (Zhuk.) Zhuk. The present study reports the sequencing and annotation of the chloroplast genomes of the white-spiked (k-64829) and black-spiked (k-46007) forms of T. militinae, which were 135899 and 136163 bp in size, respectively. Sequencing was performed on a SURFSeq sequencer (GeneMind, China) and the chloroplast genomes were assembled using the NOVOWrap software. The phylogenetic tree constructed basis of the alignment of complete chloroplast genomes (plastomes) showed that the black-spiked form of T. militinae k-46007 is close to the Timopheevii lineage, whereas the white-spiked form k-64829 is close to the Emmer lineage, including the species Triticum persicum Vav. (syn. T. carthlicum Nevski). The question of the origin of different forms and lines of T. militinae and their authenticity is discussed.

Modern tendencies to intensification of breeding of domestic farm animals including reindeer necessitate a detailed study of genetic variability in candidate genes associated with meat productivity. At present, the primary task is to search for molecular genetic markers for identification and selection of individuals with desired characteristics. One such potential candidate gene is the DQA1 gene. It is hypothesized that individual genes of the immune system may influence the growth performance of animals. Variability in the DQA1 gene region has been associated with cattle size and beef production in many studies. Principal component analysis on DQA1 variability united wild and domestic reindeer in Yakutia, which implies gene flow between local breeds of domesticated reindeer and wild populations, and the formation of similar adaptation mechanisms. However, significant differences were found between wild and Evenki reindeer of the Amur region, which may reflect the influence of domestication processes on the Evenki breed.

Two simple methods for predicting the reproducibility of effects in test samples after multiple regression analysis of the discovery sample are proposed. In particular, the method allows us to assess the feasibility of constructing efficient polygenic risk indices (PRS, PGS). Using the theory of ordinal statistics, we obtained a simple analytical formula that estimates the coefficient of determination for the model constructed for the top neutral indices (). This is the coefficient of determination under the null hypothesis, which depends only on the sample size, the total number of indicators studied (e.g., snips or CpG methylation levels), and the number of top indicators chosen to construct the regression. Comparing the observed multiple correlation square for the discovery sample with . Allows a reasonably confident prediction of the reproducibility of effects in the test samples. If the observed correlation square for the discovery sample is 1.3 times , then at least half of the original correlation square can be expected in the test samples. The second method is based on a similar comparison of the maximum correlation coefficient for the discovery sample with the expected maximum correlation for neutral traits.

The article addressed to the study of polymorphic variants of the rs2280090 ADAM33 and rs1042714 ADRB2 genes associated with a predisposition to bronchial asthma in the population of Eastern Siberia (Russian), Khakassia (Khakass) and Tuva (Tuvans). It was found that the AG genotype and the A allele of rs2280090 ADAM33 are more common among Russians compared with Tuvans. Also it was detected that the G rs1042717 ADRB2 allele is significantly more common in Russians relative to Khakas, while the prevalence of the GG genotype is higher in Tuvans compared to Khakas. The findings highlight the importance of ethnic differences in predisposition to bronchial asthma and may be useful for developing strategies for the prevention and treatment of this disease.