Оригинальный русский текст: https://vavilovj-icg.ru/2018-year/22-6/
Articles
PLANT GENETICS
×Trititrigia cziczinii Tsvel. is a synthetic species obtained as a result of hybridization of different wheat and wheat- grass species. ×T. cziczinii has unique characteristics, as it is a perennial species, with the ability to grow after mowing, high adaptability, resistance to diseases and pests, high protein and gluten content in the grain. All this makes it a promising new crop for agriculture. The new species is a good object for fundamental research in the field of genetics, phylogeny and evolution of cereals (Poaceae). However, there were practically no genetic studies of ×T. cziczinii. The aim of this work was to study the genetic diversity of 24 representatives of two ×T. cziczinii subspecies (ssp. Submitans and ssp. Perenne). To estimate interspecific differences, 17 samples of other tribe Triticeae species (Triticum aestivum, Triticum durum, Agropyron glaucum and Agropyron elon gatum, as well as samples of Triticum-Agropyron and TriticumElymus hybrids) were included in the analysis. For the study, AFLP method (Amplified Fragment Length Polymorphism) was chosen, which allowed us to reveal a sufficiently high polymorphism level of the studied samples. The two primer/enzyme combinations (EcoRI-ACT/MseI-CCC, EcoRI-ACT/MseI-CTA) allow ed the iden tification of 227 fragments, 224 of them were polymorphic (98.68 %), and the level of intraspecific polymorphism of 24 ×T. cziczinii samples was 68.15 %. The iden tified fragments of AFLP spectra, specific for the ×T. cziczinii representatives and the studied wheatgrass species, can be the basis for creating markers that will detect introgressions of genetic material of the genus Agropyron in the T. cziczinii ge nome. Our results indicate a greater genetic relatedness of ×T. cziczinii to T. aestivum than to representatives of the genus Agropyron. According to the cluster analysis, representatives of ×T. cziczinii and varieties of bread wheat were combined into a single subcluster, within which the samples of two species form separate groups. At the same time, the evaluation of the intraspecific genetic diversity of ×T. cziczinii showed no reliable differentiation of representatives of the subspecies Submitans and Perenne, which is probably due to uncertain genetic nature of perenniality, the main feature that divides these subspecies. The study of the unique ×T. cziczinii collection allowed us to obtain the first data on the genetics of the species, while previous studies were focused mainly on phenotypic and economically valuable traits. AFLP analysis used in this study showed high efficiency when working with less studied species, and its results are promising and useful for understanding the genetic structure of the new species (×T. cziczinii Tsvel.).
Plant breeding for immunity and performance
HUMAN GENETICS
Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from paraganglionic tissue of the carotid body localizing at the bifurcation of carotid artery. These tumors are slowly growing, but occasionally they become aggressive and metastatic. Surgical treatment remains high-risk and extremely challenging; radiation and chemotherapy are poorly effective. The study of molecular pathogenesis of CPGLs will allow developing novel therapeutic approaches and revealing biomarkers. Previously, we performed the exome sequencing of 52 CPGLs and estimated mutational load (ML). Paired histologically normal tissues or blood were unavailable, so potentially germline mutations were excluded from the analysis with strong filtering conditions using 1000 Genomes Project and ExAC databases. In this work, ten genes (ZNF717, CDC27, FRG2C, FAM104B, CTBP2, HLA-DRB1, HYDIN, KMT5A, MUC3A, and PRSS3) characterized by the highest level of mutational load were analyzed. Using several prediction algorithms (SIFT, PolyPhen-2, MutationTaster, and LRT), potentially pathogenic mutations were identified in four genes (CDC27, CTBP2, HYDIN, and KMT5A). Many of these mutations occurred in the majority of cases, and their mutation type was checked using exome sequencing data of blood prepared with the same exome enrichment kit that was used for preparation of exome libraries from CPGLs. The majority of the mutations were germline that can apparently be associated with annotation errors in 1000 Genomes Pro ject and ExAC. However, part of the mutations identified in CDC27, CTBP2, HYDIN, and KMT5A remain potentially pathogenic, and there is a large body of data on the involvement of these genes in the formation and progression of other tumors. This allows considering CDC27, CTBP2, HYDIN, and KMT5A genes as potentially associated with CPGL pathogenesis and requires taking them into account in further investigations. Thus, there is a necessity to improve the methods for identification of cancer-asso ciated genes as well as pathogenic mutations.