ReviewPLoS biology2004
Functional bias and spatial organization of genes in mutational hot and cold regions in the human genome.
Review in PLoS biology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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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.
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Who cites it
54 citing papers in PubMed, 128 citations in OpenAlex.
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- Template switching during DNA replication is a prevalent source of adaptive gene amplification.eLife · 2025Article
- A modeling of complex trait phenotypic variance determinants.PNAS nexus · 2024Article
- Template switching during DNA replication is a prevalent source of adaptive gene amplification.bioRxiv : the preprint server for biology · 2024Article
- Review
- AlexandrusPS: A User-Friendly Pipeline for the Automated Detection of Orthologous Gene Clusters and Subsequent Positive Selection Analysis.Genome biology and evolution · 2023Article
- Emergence and influence of sequence bias in evolutionarily malleable, mammalian tandem arrays.BMC biology · 2023Article
- Article
- Why Do Some Vertebrates Have Microchromosomes?Cells · 2021Review
- Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism.Journal of human genetics · 2020Article
- SNP Diversity inGenes · 2020Article
- Passenger Hotspot Mutations in Cancer.Cancer cell · 2019Article
- Identification of polymorphisms in the bovine collagenous lectins and their association with infectious diseases in cattle.Immunogenetics · 2018Article
- Homo sapiens-Specific Binding Site Variants within Brain Exclusive Enhancers Are Subject to Accelerated Divergence across Human Population.Genome biology and evolution · 2018Article
- Mechanisms and consequences of diversity-generating immune strategies.Nature reviews. Immunology · 2017Review
- Genome Mutational and Transcriptional Hotspots Are Traps for Duplicated Genes and Sources of Adaptations.Genome biology and evolution · 2017Article
- Nucleotide diversity analysis highlights functionally important genomic regions.Scientific reports · 2016Article
- Article
- The effects of chromatin organization on variation in mutation rates in the genome.Nature reviews. Genetics · 2015Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The neutral mutation rate is known to vary widely along human chromosomes, leading to mutational hot and cold regions. We provide evidence that categories of functionally related genes reside preferentially in mutationally hot or cold regions, the size of which we have measured. Genes in hot regions are biased toward extracellular communication (surface receptors, cell adhesion, immune response, etc.), while those in cold regions are biased toward essential cellular processes (gene regulation, RNA processing, protein modification, etc.). From a selective perspective, this organization of genes could minimize the mutational load on genes that need to be conserved and allow fast evolution for genes that must frequently adapt. We also analyze the effect of gene duplication and chromosomal recombination, which contribute significantly to these biases for certain categories of hot genes. Overall, our results show that genes are located nonrandomly with respect to hot and cold regions, offering the possibility that selection acts at the level of gene location in the human genome.
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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.