传染性疾病的遗传易感性

传染性疾病是威胁人类健康的主要疾病类型之一。传染病的发生、发展是致病微生物、宿主的遗传因素与环境相互作用的结果。大量以单核苷酸多态性（SNP）为遗传标记,基于家系或无关群体的连锁和关联分析,已绘制出传染性疾病易感性的基因图谱。目前易感性的研究主要集中在疟疾、获得性免疫缺陷综合征、乙肝和严重急性呼吸系统综合征等传染性疾病。     

Genetics of Connective Tissue Diseases: State of the Art and Perspectives

Current problems and some future perspectives of molecular genetic study of connective tissue diseases (CTDs) are reviewed. The corresponding clinical manifestation and mode of heritable disorders of connective tissue (HDCT) inheritance are subdivided into inherited, mostly monogenic, forms and mixed or multifactorial dysplasia of connective tissue (MDCTs). Both forms, especially MDCT, pose significant problems for precise clinical diagnostics. Implementation of modern DNA technologies includes new generation sequencing and clinical exome sequencing which provided a substantial impact in understanding the complex molecular genetic background of CTDs. Owing to new technologies, hundreds of new causative genes of CTDs were found and many commercial gene panels were designed for more precise and objective diagnostics of different CTDs. The results of implementation of NGS for analysis of both HDCTs and especially MDCTs complicated with common syntropic diseases as well as some new data on epigenetic causes of CTDs are briefly summarized. Special attention is paid to biological models and cell culture technologies complemented results of NGS in CTDs. Obvious advantages, relevant problems, and definite limitations in clinical implication of NGS for CTDs studies are discussed.     

Evolutional and biological aspects of placentophagia

Over the last 30 years it could be observed that a very small minority of modern humans consumes the human placenta that belongs to the afterbirth. This behavior, which is known by the technical term of placentophagia, is the focal point of the present essay. Placentophagia is a behavior common among almost all kinds of mammals, even primates can be observed ingesting at least amniotic fluid during the birth. However, humans of traditional human cultures consume the afterbirth only in rare cases. In detail, the present essay discusses the hypothesis that human placentophagia has a phylogenetic basis and the hypothesis that human placentophagia is physiologically reasonable. It is concluded that the behavior of the human placentophagia neither possesses a phylogenetic basis nor can be regarded as physiologically reasonable.     

Clinical Population Genetics of Hereditary Diseases among Children of the Karachay-Cherkess Republic

Russian Journal of Genetics - The results of genetic and epidemiological study of monogenic hereditary diseases (HD) among children of the Karachay-Cherkess Republics are presented. The surveyed...     

Evolutional study on acetylcholine expression

Acetylcholine (ACh) is a well-known neurotransmitter in the cholinergic nervous systems of vertebrates and insects; however, there is only indirect evidence for its presence in lower invertebrates, such as plants and fungi. We therefore investigated the expression of ACh in invertebrates (sea squirt, sea urchin, trepang, squid, abalone, nereis, sea anemone, coral and sponge), plants (arabidopsis, eggplant, bamboo shoot, cedar, hinoki, pine, podcarp, fern, horsetail and moss), fungi (yeast and mushroom) and bacteria by assaying ACh content and synthesis, focusing on the presence of two synthetic enzymes, choline acetyltransferase (ChAT) and carnitine acetyltransferase (CarAT). Using a specific radioimmunoassay, ACh was detected in all samples tested. The levels varied considerably, however, with the upper portion of bamboo shoots having the highest content (2.9 micromol/g). ACh synthesis was also detected in all samples tested; moreover, the activity in most samples from the animal kingdom, as well as bamboo shoots and the stem of the shiitake mushroom, were sensitive to both ChAT and CarAT inhibitors. Levels of ACh synthesis were lower in samples from other plants, fungi and bacteria and were insensitive to ChAT and CarAT inhibitors. These findings demonstrate the presence of ACh and ACh-synthesizing activity in evolutionally primitive life as well as in more complex multicellular organisms. In the context of the recent discovery of non-neuronal ACh in various mammalian species, these findings suggest that ACh been expressed in organisms from the beginning of life, functioning as a local mediator as well as a neurotransmitter.     

Evolutional and clinical implications of the epigenetic regulation of protein glycosylation

Protein N glycosylation is an ancient posttranslational modification that enriches protein structure and function. The addition of one or more complex oligosaccharides (glycans) to the backbones of the majority of eukaryotic proteins makes the glycoproteome several orders of magnitude more complex than the proteome itself. Contrary to polypeptides, which are defined by a sequence of nucleotides in the corresponding genes, glycan parts of glycoproteins are synthesized by the activity of hundreds of factors forming a complex dynamic network. These are defined by both the DNA sequence and the modes of regulating gene expression levels of all the genes involved in N glycosylation. Due to the absence of a direct genetic template, glycans are particularly versatile and apparently a large part of human variation derives from differences in protein glycosylation. However, composition of the individual glycome is temporally very constant, indicating the existence of stable regulatory mechanisms. Studies of epigenetic mechanisms involved in protein glycosylation are still scarce, but the results suggest that they might not only be important for the maintenance of a particular glycophenotype through cell division and potentially across generations but also for the introduction of changes during the adaptive evolution.