Abstract
T has sometimes been suggested that the wild-type allele is not a single entity, I but rather a population of different isoalleles that are indistinguishable by any ordinary procedure. With hundreds of nucleotides, each presumably capable of base substitutions and with additional permutations possible through sequence rearrangements, gains, and losses, the number of possible gene states becomes astronomical. It is known that a single nucleotide substitution can have the most drastic consequences, but there are also mutations with very minute effects and there is the possibility that many are so small as to be undetectable. It is not the purpose of this article to discuss the plausibility of such a system of isoalleles, or the evidence for and against. Instead, we propose to examine some of the population consequences of such a system if it does exist. The probability seems great enough to warrant such an inquiry. If a large number of different states can arise by mutation, this doesn't necessarily mean that a large fraction of these would coexist in a single population. Some will be lost by random drift and others may be selectively disadvantageous. On the other hand, some may persist by being beneficial in heterozygous combinations. We shall consider three possibilities: ( 1 ) A system of selectively neutral isoalleles whose frequency in the population is determined by the mutation rate and by random drift. (2) A system of mutually heterotic alleles. ( 3 ) A mixture of heterotic and harmful mutants.
Keywords
Affiliated Institutions
Related Publications
Apparent heterozygote deficiencies observed in DNA typing data and their implications in forensic applications
Summary Restriction fragment length polymorphisms (RFLP) analysis using the Southern blot technique can be used to recognize copy number variation of variable number of tandem r...
<scp>micro</scp>‐<scp>checker</scp>: software for identifying and correcting genotyping errors in microsatellite data
Abstract DNA degradation, low DNA concentrations and primer‐site mutations may result in the incorrect assignment of microsatellite genotypes, potentially biasing population gen...
Temporal analysis of archived samples indicates marked genetic changes in declining North Sea cod (<i>Gadus morhua</i>)
Despite increasing evidence that current exploitation rates can contribute to shifts in life-history traits and the collapse of marine fish stocks, few empirical studies have in...
Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
We have assessed the numbers of potentially deleterious variants in the genomes of apparently healthy humans by using (1) low-coverage whole-genome sequence data from 179 indivi...
Joint Inference of Microsatellite Mutation Models, Population History and Genealogies Using Transdimensional Markov Chain Monte Carlo
Abstract We provide a framework for Bayesian coalescent inference from microsatellite data that enables inference of population history parameters averaged over microsatellite m...
Publication Info
- Year
- 1964
- Type
- article
- Volume
- 49
- Issue
- 4
- Pages
- 725-738
- Citations
- 2655
- Access
- Closed
External Links
Social Impact
Social media, news, blog, policy document mentions
Citation Metrics
Cite This
Identifiers
- DOI
- 10.1093/genetics/49.4.725