ArticleGenetics2004
Population genetic and phylogenetic evidence for positive selection on regulatory mutations at the factor VII locus in humans.
Article in Genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 54 citations in OpenAlex.
- Novelty versus innovation of gene regulatory elements in human evolution and disease.Current opinion in genetics & development · 2025Review
- Bovine leukemia virus long terminal repeat variability: identification of single nucleotide polymorphisms in regulatory sequences.Virology journal · 2018Article
- Evolution of transcript modification byGenome research · 2017Article
- A novel test for selection on cis-regulatory elements reveals positive and negative selection acting on mammalian transcriptional enhancers.Molecular biology and evolution · 2013Article
- The evolutionary dynamics of functional modules and the extraordinary plasticity of regulons: the Escherichia coli perspective.Nucleic acids research · 2012Article
- Methods to detect selection on noncoding DNA.Methods in molecular biology (Clifton, N.J.) · 2012Review
- A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease.The pharmacogenomics journal · 2010Article
- Association of orthodenticle with natural variation for early embryonic patterning in Drosophila melanogaster.Journal of experimental zoology. Part B, Molecular and developmental evolution · 2009Article
- Adaptive variation regulates the expression of the human SGK1 gene in response to stress.PLoS genetics · 2009Article
- Gene expression levels are a target of recent natural selection in the human genome.Molecular biology and evolution · 2009Article
- Worldwide population differentiation at disease-associated SNPs.BMC medical genomics · 2008Article
- Article
- Article
- Patterns of variation in DNA segments upstream of transcription start sites.Human mutation · 2007Article
- The evolution of mammalian gene families.PloS one · 2006Article
- Article
- Large-scale turnover of functional transcription factor binding sites in Drosophila.PLoS computational biology · 2006Article
- Neutral and adaptive variation in gene expression.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
- Human F7 sequence is split into three deep clades that are related to FVII plasma levels.Human genetics · 2006Article
- Primate-specific evolution of an LDLR enhancer.Genome biology · 2006Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The abundance of cis-regulatory polymorphisms in humans suggests that many may have been important in human evolution, but evidence for their role is relatively rare. Four common polymorphisms in the 5' promoter region of factor VII (F7), a coagulation factor, have been shown to affect its transcription and protein abundance both in vitro and in vivo. Three of these polymorphisms have low-frequency alleles that decrease expression of F7 and may provide protection against myocardial infarction (heart attacks). The fourth polymorphism has a minor allele that increases the level of transcription. To look for evidence of natural selection on the cis-regulatory variants flanking F7, we genotyped three of the polymorphisms in six Old World populations for which we also have data from a group of putatively neutral SNPs. Our population genetic analysis shows evidence for selection within humans; surprisingly, the strongest evidence is due to a large increase in frequency of the high-expression variant in Singaporean Chinese. Further characterization of a Japanese population shows that at least part of the increase in frequency of the high-expression allele is found in other East Asian populations. In addition, to examine interspecific patterns of selection we sequenced the homologous 5' noncoding region in chimpanzees, bonobos, a gorilla, an orangutan, and a baboon. Analysis of these data reveals an excess of fixed differences within transcription factor binding sites along the human lineage. Our results thus further support the hypothesis that regulatory mutations have been important in human evolution.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.