ArticleAmerican journal of human genetics1999
Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Human Prehistoric Demography Revealed by the Polymorphic Pattern of CpG Transitions.Molecular biology and evolution · 2020Article
- Mode and Tempo of Microsatellite Length Change in a Malaria Parasite Mutation Accumulation Experiment.Genome biology and evolution · 2019Article
- A population genetic approach to mapping neurological disorder genes using deep resequencing.PLoS genetics · 2011Article
- The tendency to recreate ancestral CG dinucleotides in the human genome.BMC evolutionary biology · 2011Article
- Substitution patterns are under different influences in primates and rodents.Genome biology and evolution · 2011Article
- Selective sweeps and parallel mutation in the adaptive recovery from deleterious mutation in Caenorhabditis elegans.Genome research · 2010Article
- A genome-wide view of Caenorhabditis elegans base-substitution mutation processes.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- A genome-wide view of the spectrum of spontaneous mutations in yeast.Proceedings of the National Academy of Sciences of the United States of America · 2008Article
- Marked variation in predicted and observed variability of tandem repeat loci across the human genome.BMC genomics · 2008Article
- Mutational pattern and frequency of induced nucleotide changes in mouse ENU mutagenesis.BMC molecular biology · 2007Article
- Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.Journal of medical genetics · 2007Article
- The GC content of primates and rodents genomes is not at equilibrium: a reply to Antezana.Journal of molecular evolution · 2006Article
- Uncertainty principle of genetic information in a living cell.Theoretical biology & medical modelling · 2005Article
- Oscillating evolution of a mammalian locus with overlapping reading frames: an XLalphas/ALEX relay.PLoS genetics · 2005Article
- Size of the protein-coding genome and rate of molecular evolution.Journal of human genetics · 2005Article
- A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs.Mammalian genome : official journal of the International Mammalian Genome Society · 2003Article
- Neutral substitutions occur at a faster rate in exons than in noncoding DNA in primate genomes.Genome research · 2003Article
- Determinants of CpG islands: expression in early embryo and isochore structure.Genome research · 2001Article
- Are rare variants responsible for susceptibility to complex diseases?American journal of human genetics · 2001Article
- The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.American journal of human genetics · 2001Article
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3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We estimated the rates per base per generation of specific types of mutations, using our direct estimate of the overall mutation rate for hemophilia B and information on the mutations present in the United Kingdom's population as well as those reported year by year in the hemophilia B world database. These rates are as follows: transitions at CpG sites 9.7x10-8, other transitions 7.3x10-9, transversions at CpG sites 5.4x10-9, other transversions 6.9x10-9, and small deletions/insertions causing frameshifts 3.2x10-10. By taking into account the ratio of male to female mutation rates, the above figures were converted into rates appropriate for autosomal DNA-namely, 1.3x10-7, 9.9x10-9, 7.3x10-9, 9.4x10-9, 6.5x10-10, where the latter is the rate for all small deletion/insertion events. Mutation rates were also independently estimated from the sequence divergence observed in randomly chosen sequences from the human and chimpanzee X and Y chromosomes. These estimates were highly compatible with those obtained from hemophilia B and showed higher mutation rates in the male, but they showed no evidence for a significant excess of transitions at CpG sites in the spectrum of Y-sequence divergence relative to that of X-chromosome divergence. Our data suggest an overall mutation rate of 2.14x10-8 per base per generation, or 128 mutations per human zygote. Since the effective target for hemophilia B mutations is only 1.05% of the factor IX gene, the rate of detrimental mutations, per human zygote, suggested by the hemophilia data is approximately 1.3.
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