Zane Kliesmete, Lucas Esteban Wange ... Wolfgang Enard
Combining phylogenetic and functional approaches, it is shown that the protein sequence, the proliferative activity, and a regulatory element of TRNP1 co-evolve with brain size and folding.
The mechanisms by which non-pathologic short tandem repeats normally influence gene expression and engender rapid genetic variation across phylogeny directly inform how expansions in these same repeats elicit neurological disease.
MTIF3 safeguards mitochondrial electron transport chain assembly in adipocytes, and affects thus adipocyte fatty acid oxidation ability, which can explain why MTIF3 genetic variation can influence dietary intervention aimed at weight loss.
A new framework for mutation spectrum analysis reveals multiple independent changes in the germline mutation patterns of human populations, which cannot be explained by shifts in average ages at reproduction.
A new screening strategy for divergent homologs of insect odorant and gustatory receptors, based upon predicted three-dimensional structural similarity, unexpectedly identifies candidates in humans.
Expanding a statistical approach called Mendelian randomization to include multiple variables may help researchers to identify new molecular causes of specific traits.
Integrating multi-omics quantitative trait loci and genome-wide association study data into a multivariable Mendelian randomization framework allows to identify metabolite-mediated transcript-to-phenotype causal relations missed by methods focusing on a single omics layer.
The m1A modification plays vital roles in the regulation of the biological functions of multiple RNA species (including mRNA, lncRNA, and circRNA) and influences the interactions between these RNAs.
