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Yohannes, M.

Publications and source records attributed to Yohannes, M..

2 recordsLinked to original sources

Multiple adaptive trajectories shape antimalarial resistance evolution in Ethiopian Plasmodium falciparum

Plasmodium falciparum malaria continues to impose a substantial public health burden across sub-Saharan Africa, with Ethiopia experiencing a recent resurgence in malaria cases. We analysed whole genome data from 120 P. falciparum isolates collected in 2024 across five ecologically and epidemiologically diverse transmission settings in Ethiopia and placed these in the context of 1,220 publicly available genomes. Parasite populations were highly structured within Ethiopia, while Horn of Africa isolates formed a genetically distinct regional cluster relative to East and West African populations. We identified evidence of recent positive selection surrounding the artemisinin resistance associated PfK13 R622I variant and detected co-occurrence with Pfcrt mutations together with recurrent selection signals at genes within the PfK13-associated haemoglobin endocytosis pathway, including Pfmca2, Pfkic7, Pfkic8 and Pfkic9. We further observed the emergence of the PfPX1 D384A-PIN haplotype, with shared identity-by-descent linking Ethiopian and Ugandan carriers, supporting a recent introduction followed by local selection. Widespread Pfhrp2/3 deletions occurred on diverse genetic backgrounds. Together, these findings reveal a complex adaptive landscape shaped by antimalarial and diagnostic selection pressures and suggest that parasite evolution in the Horn of Africa proceeds through multiple adaptive trajectories, rather than through the spread of a single dominant lineage.

microbiology↗

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

The depletion of disruptive variation caused by purifying natural selection (constraint) has been widely used to investigate protein-coding genes underlying human disorders, but attempts to assess constraint for non-protein-coding regions have proven more difficult. Here we aggregate, process, and release a dataset of 76,156 human genomes from the Genome Aggregation Database (gnomAD), the largest public open-access human genome reference dataset, and use this dataset to build a mutational constraint map for the whole genome. We present a refined mutational model that incorporates local sequence context and regional genomic features to detect depletions of variation across the genome. As expected, proteincoding sequences overall are under stronger constraint than non-coding regions. Within the non-coding genome, constrained regions are enriched for known regulatory elements and variants implicated in complex human diseases and traits, facilitating the triangulation of biological annotation, disease association, and natural selection to non-coding DNA analysis. More constrained regulatory elements tend to regulate more constrained protein-coding genes, while non-coding constraint captures additional functional information underrecognized by gene constraint metrics. We demonstrate that this genome-wide constraint map provides an effective approach for characterizing the non-coding genome and improving the identification and interpretation of functional human genetic variation.

genetics↗