Achievements in breeding and main directions for improving black currant adssortment in Federal Horticultural Research Center for Breeding, Agrotechnology and Nursery

The article presents the main results of twenty years of research carried out at the Federal Horticultural Research Center for Breeding, Agrotechnology and Nursery (Kokino Base Station) on the search and creation of various genetic origin genotypes and the possibility of their use in further breeding work on black currants. The created genetic sources of resistance to American powdery mildew, leaf spots (canker, septoria, cercosporosis), large-fruited, berries’ high vitamin С content, fruit strength, plant productivity are presented: 7-37-2 (Litvinovskaya × Dar Smolyaninovoy), 37-27-4/05 (Debryansk, free pollination), 63-35-1 (Lentyay × Debryansk), 68-03-1 (Charodey × Yadryonaya), 5-66-5 (Dobrynya, free pollination), 13-51-1 (Shalunya, free pollination), 33-27-1 (Strelets × Selechenskaya 2) etc. As a result of breeding research, 12 black currant varieties have been created, eight of which (Bryanskiy Agate, Debryansk, Mif, Vera, Gamayun, Strelets, Charodey, Barmaley) are included in the State Register of Breeding Achievements, approved for using.

The genetic origin and architecture of sex determination

Here, I demonstrate that sex determination and sexual dimorphism across tree of life are deeply related to polyamine biochemistry in cells, especially to the synteny of genes: [SAT1-NR0B1], [SAT2-SHBG] and DMRT1. This synteny was found to be most distinct in mammals. Further, the common protein domain of SAT1 and SAT2 - PF00583 was shown to be present in the genome of the last universal common ancestor (LUCA). Protein domain-domain interaction analysis of LUCA’s genes suggests the possibility that LUCA had developed an immune defence against viruses. This domain-domain interaction analysis is the first scientific evidence indicating that viruses existed at least 3.5 billions years ago and probably co-existed with LUCA on early Hadean Earth.

The genetic origin and architecture of sex determination

Here, I demonstrate that sex determination and sexual dimorphism across tree of life are deeply related to polyamine biochemistry in cells, especially to the synteny of genes: [SAT1-NR0B1], [SAT2-SHBG] and DMRT1. This synteny was found to be most distinct in mammals. Further, the common protein domain of SAT1 and SAT2 - PF00583 was shown to be present in the genome of the last universal common ancestor (LUCA). Protein domain-domain interaction analysis of LUCAs genes suggests the possibility that LUCA had developed an immune defence against viruses. This domain-domain interaction analysis is the first scientific evidence indicating that viruses existed at least 3.5 billions years ago and probably co-existed with LUCA on early Hadean Earth.

Pathophysiologic Mechanisms of Insulin Secretion and Signaling-Related Genes in Etiology of Polycystic Ovary Syndrome

Polycystic ovary syndrome (PCOS) is a common endocrinopathy in women. PCOS is characterized by anovulation, hyperandrogenism, polycystic ovaries, insulin resistance, and obesity. Despite the finding that the genetic origin of PCOS is well demonstrated in previous twin and familial clustering studies, genes and factors that can exactly explain the PCOS pathophysiology are not known. Objective(s). In this review, we attempted to identify genes related to secretion and signaling of insulin aspects of PCOS and their physiological functions in order to explain the pathways that are regulated by these genes which can be a prominent function in PCOS predisposition. Materials and Methods. For this purpose, published articles and reviews dealing with genetic evaluation of PCOS in women from peer-reviewed journals in PubMed and Google Scholar databases were included in this review. Results. The genomic investigations in women of different populations identified many candidate genes and loci that are associated with PCOS. The most important of them are INSR, IRS1-2, MTNR1A, MTNR1B, THADA, PPAR-γ2, ADIPOQ, and CAPN10. These are mainly associated with metabolic aspects of PCOS. Conclusions. In this review, we proposed that each of these genes may interrupt specific physiological pathways by affecting them and contribute to PCOS initiation. It is clear that the role of genes involved in insulin secretion and signaling is more critical than other pathways.

Progressive Myoclonus Epilepsies

Background and ObjectivesTo assess the current diagnostic yield of genetic testing for the progressive myoclonus epilepsies (PMEs) of an Italian series described in 2014 where Unverricht-Lundborg and Lafora diseases accounted for ∼50% of the cohort.MethodsOf 47/165 unrelated patients with PME of indeterminate genetic origin, 38 underwent new molecular evaluations. Various next-generation sequencing (NGS) techniques were applied including gene panel analysis (n = 7) and/or whole-exome sequencing (WES) (WES singleton n = 29, WES trio n = 7, and WES sibling n = 4). In 1 family, homozygosity mapping was followed by targeted NGS. Clinically, the patients were grouped in 4 phenotypic categories: “Unverricht-Lundborg disease-like PME,” “late-onset PME,” “PME plus developmental delay,” and “PME plus dementia.”ResultsSixteen of 38 (42%) unrelated patients reached a positive diagnosis, increasing the overall proportion of solved families in the total series from 72% to 82%. Likely pathogenic variants were identified in NEU1 (2 families), CERS1 (1 family), and in 13 nonfamilial patients in KCNC1 (3), DHDDS (3), SACS, CACNA2D2, STUB1, AFG3L2, CLN6, NAXE, and CHD2. Across the different phenotypic categories, the diagnostic rate was similar, and the same gene could be found in different phenotypic categories.DiscussionThe application of NGS technology to unsolved patients with PME has revealed a collection of very rare genetic causes. Pathogenic variants were detected in both established PME genes and in genes not previously associated with PME, but with progressive ataxia or with developmental encephalopathies. With a diagnostic yield >80%, PME is one of the best genetically defined epilepsy syndromes.

Alice in Wonderland Syndrome: Is There a Genetic Origin?

We describe the case of a familial situation of Alice in Wonderland seizures in a 39 years-old mother and a 14-year-old son from Southampton, United Kingdom.To date, there are only few reports supporting the thesis, Alice in Wonderland Syndrome could be hereditary. Next-generation sequencing could help to clear the genetics in AIWS.

Determination of Genetic Diversity Depending on Quantitative Characters Among Genotypes of Triticale (X Trititcosecale Wittmac) Using Cluster Analysis

The study included twenty genotypes of triticale, whose seeds were sown during 2018-2019 season at the Research Station of the Faculty of Agriculture, University of Kirkuk in the Sayyadah region on three dates (5 November, 20 November and 5 December) using randomized complete block design according to split plot system with three replications. The data were recorded for traits: first, second and third developmental stages, number of days to 50% flowering, plant height, flag leaf area, number of tillers per plant, number of spikes per plant, length and weight of spike, number of spikelet’s per spike, number of grains per spike, 1000 grains weight, biological yield, grain yield per plant, harvest index, protein percent, specific weight, gluten percent, flour strength, moisture percent and ash percentage, The data were analyzed to identify the nature of the differences between genotypes and planting dates. Because of the significant (genotypes x planting dates) interaction, a cluster analysis was conducted with the aim of grouping similar genotypes into homogeneous groups and estimating the degree of genetic diversity between them through the use of hierarchical clustering technology to estimate distances between groups of genotypes formed for each planting date separately. The results showed that the mean squares of genotypes' was highly significant 1% for all traits except harvest index, with a highly significant interaction with dates for all traits except number of spikelet’s and protein percent. The stages of the cluster analysis showed that the genotypes were distributed into 13 groups for the first date and 14 groups for the second and third dates. Some groups included one genotype, indicating the difference of these genotypes from other due to the difference in their genetic origin, which was consequently reflected on their performance, while other groups includes two genotypes. It is concluded from the results of the clustering analysis that there is a strong convergence between the genotypes of stage 18 with the genotype LIRON at the first date and with POLLMER in the second and third dates because they have the lowest euclidean distances, and this requires avoiding crosses between these pairs, while the highest distance was between CMH80 and CMH82 in the first and third dates and CENT/1715 and POPP-CAAL in the second date indicated high genetic variation between them and other genotypes, which may be due to the variation in their genetic origin or to having preferred main genes, other genotypes devoid of them, which encourages their introduction into hybridization with genotypes that showed distinct genetic variation to take advantage of the phenomenon of heterosis and its segregations.

Lipoprotein(a) levels are not independently associated with endogenous steroid hormone levels, in contrast to other non-genetic and genetic factors: the population-based SKIPOGH study

Introduction Lipoprotein(a) [Lp(a)] is an LDL-like molecule that is likely causally related to cardiovascular events. Lp(a) levels are highly variable, by more two orders of magnitude, and most of this variability appears to be of genetic origin. Exogenous hormones (hormone replacement therapy) seem to influence Lp(a) levels, but the impact of the variation of endogenous hormone levels on Lp(a) is unknown. Purpose To investigate the association between Lp(a) levels and non-genetic factors, as endogenous steroid hormone levels, in contrast to genetic factors. Methods We investigated the association of 28 endogenous steroids with Lp(a) levels and compared the association to other non-genetic and genetic variables in a prospective, population-based sample (N=1,021). Results The average age of the participants was 51 years and 53% were female. Median Lp(a) levels were 62 (±204) mg/l and the 90th and 99th percentile of Lp(a) was 616mg/l and 1035 mg/l respectively. The prevalence of a Lp(a) elevation ≥700mg/l was 3.2% and Lp(a) varied greatly from undetectable to 1,690mg/l. Age explained 2.0% of Lp(a) variability (p<0.001), 1% was explained by LDL levels (p=0.001), and 40% by two single nucleotide polymorphisms near the Lp(a) gene that have been previously described. Lp(a) levels were on average almost two times more elevated in secondary prevention and in individuals with very elevated LDL levels (≥4.9 mmol/l). Of the 28 endogenous steroid hormones assessed, 5-androstene-3b,16α,17β-triol, androsterone, 16α-hydroxy DHEA, and estriol were nominatively associated with serum Lp(a) levels and explained 0.4–1% of Lp(a) variability in univariate analyses, but they did not reach significance in multi-variate models. Conclusion Our results confirm previous findings demonstrating that the majority of the Lp(a) variation in the general population is of genetic origin. Age and LDL-levels explain a further small part of Lp(a) variability. Endogenous hormone levels do not contribute significantly to the wide range of variability. FUNDunding Acknowledgement Type of funding sources: None. Coefficient plot Lp(a) and variables

Genomic Insight Into the Population Admixture History of Tungusic-Speaking Manchu People in Northeast China

Manchu is the third-largest ethnic minority in China and has the largest population size among the Tungusic-speaking groups. However, the genetic origin and admixture history of the Manchu people are far from clear due to the sparse sampling and a limited number of markers genotyped. Here, we provided the first batch of genome-wide data of genotyping approximate 700,000 single-nucleotide polymorphisms (SNPs) in 93 Manchu individuals collected from northeast China. We merged the newly generated data with data of publicly available modern and ancient East Asians to comprehensively characterize the genetic diversity and fine-scale population structure, as well as explore the genetic origin and admixture history of northern Chinese Manchus. We applied both descriptive methods of ADMIXTURE, fineSTRUCTURE, FST, TreeMix, identity by decedent (IBD), principal component analysis (PCA), and qualitative f-statistics (f3, f4, qpAdm, and qpWave). We found that Liaoning Manchus have a close genetic relationship and significant admixture signal with northern Han Chinese, which is in line with the cluster patterns in the haplotype-based results. Additionally, the qpAdm-based admixture models showed that modern Manchu people were formed as major ancestry related to Yellow River farmers and minor ancestry linked to ancient populations from Amur River Bain, or others. In summary, the northeastern Chinese Manchu people in Liaoning were an exception to the coherent genetic structure of Tungusic-speaking populations, probably due to the large-scale population migrations and genetic admixtures in the past few hundred years.