Home / Public paper maps / PaperSee where this research leads. A citation map has not been saved for this paper yet.
The paper record is available below. Preparing a network uses the existing account and source-allowance controls.
Papers that cite this work No saved citation network is available; this does not mean the paper has no citations.
The evidence behind the map Publication record Research article.
Abstract The recent publication of the draft genome sequences of the Neanderthal and a ∼50,000-year-old archaic hominin from Denisova Cave in southern Siberia has ushered in a new age in molecular archaeology. We previously cross-compared the human, chimpanzee and Neanderthal genome sequences with respect to a set of disease-causing/disease-associated missense and regulatory mutations (Human Gene Mutation Database) and succeeded in identifying genetic variants which, although apparently pathogenic in humans, may represent a 'compensated' wild-type state in at least one of the other two species. Here, in an attempt to identify further 'potentially compensated mutations' (PCMs) of interest, we have compared our dataset of disease-causing/disease-associated mutations with their corresponding nucleotide positions in the Denisovan hominin, Neanderthal and chimpanzee genomes. Of the 15 human putatively disease-causing mutations that were found to be compensated in chimpanzee, Denisovan or Neanderthal, only a solitary F5 variant (Val1736Met) was specific to the Denisovan. In humans, this missense mutation is associated with activated protein C resistance and an increased risk of thromboembolism and recurrent miscarriage. It is unclear at this juncture whether this variant was indeed a PCM in the Denisovan or whether it could instead have been associated with disease in this ancient hominin.
Coverage and freshness Citation coverage has not been established for this paper.
Counts describe saved source records; repository versions may appear separately. A completed source query is not a complete or live citation census. A citation does not prove endorsement or research quality. Counts depend on publication age and index coverage. Colors identify research areas; positions are for readability.
Source: Saved OpenAlex scholarly metadata. Visits to this public page do not acquire new provider data.
Report a correction 