Biallelic variants in MCAT are associated with combined oxidative phosphorylation deficiency in humans and a clinical presentation that includes hypotonia, developmental delay, failure to thrive, and nystagmus.
Raeann Goering, Ankita Arora ... J Matthew Taliaferro
Mechanisms that regulate RNA localization in one cell type predictably regulate RNA localization in other cell types, even if they have vastly different morphologies, implying an underlying regulatory code that cuts across specific subcellular structures.
Dušica Briševac, Carolina M Peralta, Tobias S Kaiser
In the marine midge Clunio marinus, sympatric ecological population divergence with gene flow is based on at least four genetic loci, which partially overlap with large chromosomal inversions.
Baltic and Arctic ecotypes of the marine midge Clunio emerged from a recent adaptive radiation, which is based on standing genetic variation at many loci involved in time-keeping and nervous system development.
Kevin Chun-Ho Ngan, Samuel M Hoenig ... Brian B Liau
Activity-based inhibitors, in conjunction with new experimental and computational tools, enable the discovery of mechanisms involved in DNMT1 autoinhibition.
Lillian C Lowrey, Leslie A Kent ... Peggy A Cotter
Some Burkholderia thailandensis strains have evolved a bet-hedging strategy by acquiring insertion sequences positioned such that RecA-dependent homologous recombination between them results in duplication of intervening sequences, which promotes biofilm formation.
Selective sweepstakes from pervasive positive selection, rather than demographic changes or random sweepstakes reproduction, is the primary determinant of reproductive skew and genetic diversity in the highly prolific Atlantic cod.
Ipsita Agarwal, Zachary L Fuller ... Molly Przeworski
Loss-of-function mutations in human genes are an important class of disease causing variation, and estimates of their effects on evolutionary fitness can be used to evaluate their pathogenicity.
