The aryl hydrocarbon receptor (AHR) is a transcription factor that has many functions in mammals. Its best known function is that it binds aromatic hydrocarbons and induces the expression of cytochrome P450 genes, which encode enzymes that metabolize aromatic hydrocarbons and other substrates. All present-day humans carry an amino acid substitution at position 381 in the AHR that occurred after the divergence of modern humans from Neandertals and Denisovans.
View Article and Find Full Text PDFIn the late 19th century, Swedish mathematician Edvard Phragmén proposed a load-balancing approach for selecting committees based on approval ballots. We consider three committee voting rules resulting from this approach: two optimization variants-one minimizing the maximum load and one minimizing the variance of loads-and a sequential variant. We study Phragmén 's methods from an axiomatic point of view, focusing on properties capturing proportional representation.
View Article and Find Full Text PDFCRISPR nucleases can introduce double-stranded DNA breaks in genomes at positions specified by guide RNAs. When repaired by the cell, this may result in the introduction of insertions and deletions or nucleotide substitutions provided by exogenous DNA donors. However, cellular repair can also result in unintended on-target effects, primarily larger deletions and loss of heterozygosity due to gene conversion.
View Article and Find Full Text PDFIn 1998 a long-lost proposal for an election law by Gottlob Frege (1848-1925) was rediscovered in the in Jena, Germany. The method that Frege proposed for the election of representatives of a constituency features a remarkable concern for the representation of minorities. Its core idea is that votes cast for unelected candidates are carried over to the next election, while elected candidates incur a cost of winning.
View Article and Find Full Text PDFTrujillo . (Research Articles, 12 February 2021, eaax2537) conclude that the reintroduction of an ancestral amino acid substitution in the protein NOVA1 drastically alters the development of brain organoids. We show that cell lines used by the authors carry heterozygous deletions of the target DNA sequence, providing another plausible explanation for the effects observed.
View Article and Find Full Text PDFThis paper contains an extensive combinatorial analysis of the single-peaked domain restriction and investigates the likelihood that an election is single-peaked. We provide a very general upper bound result for domain restrictions that can be defined by certain forbidden configurations. This upper bound implies that many domain restrictions (including the single-peaked restriction) are very unlikely to appear in a random election chosen according to the Impartial Culture assumption.
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