bims-humivi 2026-05-10 papers

Issue of 2026–05–10
three papers selected by
Mariangela Santorsola, Università di Pavia

J Assist Reprod Genet. 2026 May 05.

Current state of the art in the transmission of mitochondrial DNA pathogenic variants: reviewing preventive-therapeutic alternatives.

Marta Reguera-Cabezas, Felipe Martínez-Pastor, Cristina Soriano-Úbeda.

This review analyzes strategies to prevent or reduce the transmission of diseases caused by pathogenic variants in mitochondrial DNA (mtDNA). Among these, we will focus on prenatal screening, preimplantation genetic testing, gene-editing techniques, other molecular tools, and selected heterologous mitochondrial replacement techniques (MRTs), explaining their status and the uncertainties surrounding their clinical application. After this analysis and review, we recognise the limitations of the efficacy of prenatal and preimplantation genetic testing for mitochondrial DNA pathogenic variants, the legal constraints on gene editing, and the status of mitochondrial replacement techniques. MRTs are a safe and possibly more effective alternative for preventing diseases caused by mitochondrial DNA pathogenic variants.

Keywords: Assisted reproduction; Genetics; Heteroplasmy; Mitochondrial diseases; Mitochondrial replacement

DOI: https://doi.org/10.1007/s10815-026-03888-0

Genes (Basel). 2026 Apr 14. pii: 455. [Epub ahead of print]17(4):

Morphological and Cyto-Nuclear Conflicting Signals Across Non-Sister Lineages in Darkling Beetles (Tenebrionidae: Akis).

Pilar Jurado-Angulo, Ernesto Recuero, José L Ruiz, Mario García-París.

Background/Objectives: Cyto-nuclear discordances, resulting from the independent evolutionary histories of cytoplasmic and nuclear genomes, often obscure phylogenetic inference and species delimitation, particularly at shallow taxonomic levels. In this study, we examine the extent and causes of cyto-nuclear discordances within the darkling beetle tribe Akidini (Coleoptera: Tenebrionidae), focusing on the genera Akis Herbst, 1799 and Morica Dejean, 1834. Methods: Using two molecular markers-nuclear histone 3 (H3) and mitochondrial cytochrome c oxidase subunit I (COI)-and a comprehensive sampling from western Europe and northern Africa, we assess reciprocal monophyly, internal relationships, and phylogenetic incongruence across datasets. Results: Discordances between morphological species assignment and mitochondrial topologies may result from retained ancient polymorphisms or historical introgression among closely related species (e.g., Akis genei vs. Akis lusitanica). However, these causes seem less plausible for explaining discordances between nuclear and mitochondrial markers involving non-closely related species (e.g., A. discoidea and A. granulifera). The geographic location of the problematic specimens, limited to a narrow marginal contact zone between the two non-sister species, suggests that local hybridisation may occur. Conclusions: Our results indicate that cyto-nuclear discordances between mitochondrial and nuclear markers, even across morphologically well-differentiated non-sister lineages, may be more frequent than previously assumed in darkling beetles, highlighting both their evolutionary relevance and the need for caution when relying solely on mitochondrial data for species identification.

Keywords: Coleoptera; marker discordance; morphological traits; western Palearctic

DOI: https://doi.org/10.3390/genes17040455

Nat Commun. 2026 May 07.

Extensive antagonistic variants across the human genome.

Beilei Bian, Valentin Hivert, Naomi R Wray, Allan F McRae.

Pleiotropic conflict, where a genetic locus has antagonistic effects on different traits, is a common phenomenon observed in animals and plants. While pleiotropy has been widely reported in humans, there is no systematic study of pleiotropic conflict in humans. Here, we leverage summary statistics from genome-wide association studies of complex diseases and traits derived from large-scale population cohorts to identify pleiotropic regions with conflicting effects. Through a multi-trait colocalization approach, we identified 219 independent regions containing variants showing pleiotropic conflict, which cover ~11.4% of linkage disequilibrium blocks in the human genome. Antagonistic variants are observed to be enriched for genetic variants with intermediate minor allele frequencies and antagonistic regions show signatures of positive/balancing selection. Our results suggest that antagonistic variants are pervasive in humans and indicate their role in maintaining phenotypic and genetic diversity in humans.

DOI: https://doi.org/10.1038/s41467-026-71215-3