Publications by Konstantin Popadin

Deciphering the Foundations of Mitochondrial Mutational Spectra: Replication-Driven and Damage-Induced Signatures Across Chordate Classes

Mitochondrial DNA (mtDNA) mutagenesis remains poorly understood despite its crucial role in disease, aging, and evolutionary tracing. In this study, we reconstructed a comprehensive 192-component mtDNA mutational spectrum for chordates by analyzing 118,397 ...

OXFORD UNIV PRESS2025

Prevalence of clonal hematopoiesis in people living with HIV

Jacques Fellay, Konstantin Popadin, Valeriia Timonina

Springernature2024

Mitochondria-specific signature of oxidative damage in human cancers: an excess of A>G on heavy chain of the mitochondrial genome in slow-dividing normoxic tissues

Konstantin Popadin

Springernature2024

Low mitochondrial content marks high health status of human euploid embryos

Konstantin Popadin

Springernature2024

Aneuploid human embryos are associated with increased maternal age, poor embryo morphology, high mitochondrial content and advanced development day of the biopsy: an analysis of 15'000 embryonic genomes

Konstantin Popadin

Springernature2024

Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive

Konstantin Popadin

The resilience of the mitochondrial genome (mtDNA) to a high mutational pressure depends, in part, on negative purifying selection in the germline. A paradigm in the field has been that such selection, at least in part, takes place in primordial germ cells ...

Elsevier Sci Ltd2023

Deamination of adenine to guanine is a signature of oxidative damage in mitochondrial DNA

Konstantin Popadin, Dmitrii Iliushchenko

Springernature2023

Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene

Konstantin Popadin, Valeriia Timonina

Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) ...

MDPI2023

Secondary structure of the human mitochondrial genome affects formation of deletions

Jacques Fellay, Konstantin Popadin

BackgroundAging in postmitotic tissues is associated with clonal expansion of somatic mitochondrial deletions, the origin of which is not well understood. Such deletions are often flanked by direct nucleotide repeats, but this alone does not fully explain ...

BMC2023

Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline

Konstantin Popadin

The A-to-G point mutation at position 3243 in the human mitochondrial genome (m.3243A > G) is the most common pathogenic mtDNA variant responsible for disease in humans. It is widely accepted that m.3243A > G levels decrease in blood with age, and an age c ...

Oxford University Press2022

Mitochondrial Pseudogenes Suggest Repeated Inter-Species Hybridization among Direct Human Ancestors

Konstantin Popadin

The hypothesis that the evolution of humans involves hybridization between diverged species has been actively debated in recent years. We present the following novel evidence in support of this hypothesis: the analysis of nuclear pseudogenes of mtDNA ("NUM ...

MDPI2022

A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand

Jacques Fellay, Stepan Denisov, Konstantin Popadin, Dmitrii Iliushchenko

The mutational spectrum of the mitochondrial DNA (mtDNA) does not resemble any of the known mutational signatures of the nuclear genome and variation in mtDNA mutational spectra between different organisms is still incomprehensible. Since mitochondria are ...

OXFORD UNIV PRESS2022

A billion-year trend of amino acid substitutions in the mitochondrial genome

Jacques Fellay, Konstantin Popadin, Valeriia Timonina, Dmitrii Iliushchenko

SPRINGERNATURE2022

Risk of mitochondrial deletions is affected by the global secondary structure of the mitochondrial genome

Jacques Fellay, Konstantin Popadin

SPRINGERNATURE2022

Mitochondrial mutational spectrum in human cancers is sensitive to cellular hypoxia

Jacques Fellay, Konstantin Popadin

SPRINGERNATURE2022

Increased CHIP prevalence amongst people living with HIV

Jacques Fellay, Konstantin Popadin

SPRINGERNATURE2022

Increased prevalence of clonal hematopoiesis of indeterminate potential amongst people living with HIV

Jacques Fellay, Christian Axel Wandall Thorball, Konstantin Popadin

People living with human immunodeficiency virus (PLWH) have significantly increased risk for cardiovascular disease in part due to inflammation and immune dysregulation. Clonal hematopoiesis of indeterminate potential (CHIP), the age-related acquisition an ...

Nature Portfolio2022

The genomic landscape of human cellular circadian variation points to a novel role for the signalosome

Daniel Alain Dominique Marie Mauvoisin, Frédéric Bruno Martin Gachon, Konstantin Popadin

The importance of natural gene expression variation for human behavior is undisputed, but its impact on circadian physiology remains mostly unexplored. Using umbilical cord fibroblasts, we have determined by genome-wide association how common genetic varia ...

Elife Sciences Publications Ltd2017