Publications by authors named "Maksiutenko E"
Article Synopsis
- Over the past 20 years, genome-wide association studies (GWAS) have explored the genetic basis of complex human traits, but a comprehensive analysis of variant-level properties influencing the replication of these associations has been lacking in biobank studies.
- A comparison of GWAS summary statistics from the UK Biobank and FinnGen identified 37,148 index variants linked to complex traits, with only 9.5% of these variants being shared between the two cohorts; a significant number (9230 loci) did not replicate.
- The study found that non-replicated variants tend to be rarer and exhibit lower effect sizes, while variants identified only in meta-analysis were more common but still had low effects, underscoring the challenges
Article Synopsis
- Yeast have two critical translation termination factors, eRF1 and eRF3, whose mutations lead to the amplification of their mutant alleles, which is vital for cell survival.
- The study used RNA-Seq and proteome analysis to explore how yeast cells adapt to nonsense mutations and found significant gene expression changes affecting the cell cycle.
- The researchers suggest that the adaptation involves a delay in cell cycle progression, particularly at the G2-M transition, resulting in extended S and G2 phases that promote the replication of the mutant alleles.
Article Synopsis
- The study investigates how humans adapt to extreme environmental conditions, focusing on high altitude mountaineers facing low oxygen levels (hypoxia).
- Researchers analyzed the genetic makeup of 22 elite climbers and discovered two significant genetic variants associated with hypoxic adaptation, which may lead to respiratory issues.
- The findings suggest that certain genetic losses in function could play a crucial role in enabling adaptation to harsh conditions, aligning with previous research on human adaptation.
Article Synopsis
- Pregnancy loss is a common and devastating complication during pregnancy, with genetic factors playing a significant role, yet over 30% of causes remain unexplained.
- This review synthesizes a decade's worth of research on genetic risk factors for pregnancy loss, identifying 270 genetic variants across 196 unique genes linked to the condition.
- The findings highlight that many of these genes are evolutionarily conserved and involved in essential developmental processes, providing a basis for predicting pregnancy loss risk and guiding future genetic studies.
Article Synopsis
- Significant advancements in collecting, storing, and analyzing biological samples have led to the establishment of large biobanks worldwide, some housing over a million samples alongside clinical data.
- Biobanks play a crucial role in medical genetics and genomics by offering allele frequency information and enabling large-scale studies across different ancestries.
- Recently, combining data from multiple biobanks has enhanced research capabilities, allowing for more robust genetic association findings, though researchers must be mindful of certain limitations in this trans-biobank approach.
Complications endangering mother or fetus affect around one in seven pregnant women. Investigation of the genetic susceptibility to such diseases is of high importance for better understanding of the disease biology as well as for prediction of individual risk. In this study, we collected and analyzed GWAS summary statistics from the FinnGen cohort and UK Biobank for 24 pregnancy complications.
View Article and Find Full Text PDFArticle Synopsis
- Protein synthesis (translation) is essential for living cells and consists of three main steps: initiation, elongation, and termination, with specific factors like eRF1 and eRF3 involved in yeast termination.
- Deletion of the genes encoding these factors is lethal for yeast, but some strains with nonsense mutations can survive through a feedback mechanism related to readthrough of stop codons, though the details of this mechanism are still unclear.
- Whole-genome sequencing revealed no common genetic changes, but increased copy numbers of mutant alleles were observed, with qPCR confirming that gene amplification is a key adaptation strategy for yeast with nonsense mutations in release factor genes.
Thousands of yeast genomes have been sequenced with both traditional and long-read technologies, and multiple observations about modes of genome evolution for both wild and laboratory strains have been drawn from these sequences. In our study, we applied Oxford Nanopore and Illumina technologies to assemble complete genomes of two widely used members of a distinct laboratory yeast lineage, the Peterhof Genetic Collection (PGC), and investigate the structural features of these genomes including transposable element content, copy number alterations, and structural rearrangements. We identified numerous notable structural differences between genomes of PGC strains and the reference S288C strain.
View Article and Find Full Text PDFOver the recent years, many advances have been made in the research of the genetic factors of pregnancy complications. In this work, we use publicly available data repositories, such as the National Human Genome Research Institute GWAS Catalog, HuGE Navigator, and the UK Biobank genetic and phenotypic dataset to gain insights into molecular pathways and individual genes behind a set of pregnancy-related traits, including the most studied ones-preeclampsia, gestational diabetes, preterm birth, and placental abruption. Using both HuGE and GWAS Catalog data, we confirm that immune system and, in particular, T-cell related pathways are one of the most important drivers of pregnancy-related traits.
View Article and Find Full Text PDFYeast self-perpetuating protein aggregates (yeast prions) provide a framework to investigate the interaction of misfolded proteins with the protein quality control machinery. The major component of this system that facilitates propagation of all known yeast amyloid prions is the Hsp104 chaperone that catalyzes fibril fragmentation. Overproduction of Hsp104 cures some yeast prions via a fragmentation-independent mechanism.
View Article and Find Full Text PDF