In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA, which then may undergo error-prone repair, cause an error during other forms of repair, or cause an error during replication. Mutations may also result from substitution,insertion or deletion of segments of DNA due to mobile genetic elements.
A microsatellite is a tract of repetitive DNA in which certain DNA motifs are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome. They have a higher mutation rate than other areas of DNA leading to high genetic diversity. Microsatellites are often referred to as short tandem repeats (STRs) by forensic geneticists and in genetic genealogy, or as simple sequence repeats (SSRs) by plant geneticists.
Selfish genetic elements are genetic segments that can enhance their own transmission at the expense of other genes in the genome, even if this has no positive or a net negative effect on organismal fitness. Genomes have traditionally been viewed as cohesive units, with genes acting together to improve the fitness of the organism.
Molecular evolution describes how inherited DNA and/or RNA change over evolutionary time, and the consequences of this for proteins and other components of cells and organisms. Molecular evolution is the basis of phylogenetic approaches to describing the tree of life. Molecular evolution overlaps with population genetics, especially on shorter timescales. Topics in molecular evolution include the origins of new genes, the genetic nature of complex traits, the genetic basis of adaptation and speciation, the evolution of development, and patterns and processes underlying genomic changes during evolution.
The neutral theory of molecular evolution holds that most evolutionary changes occur at the molecular level, and most of the variation within and between species are due to random genetic drift of mutant alleles that are selectively neutral. The theory applies only for evolution at the molecular level, and is compatible with phenotypic evolution being shaped by natural selection as postulated by Charles Darwin.
Population genetics is a subfield of genetics that deals with genetic differences within and among populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as adaptation, speciation, and population structure.
In evolutionary genetics, Muller's ratchet is a process which, in the absence of recombination, results in an accumulation of irreversible deleterious mutations. This happens because in the absence of recombination, and assuming reverse mutations are rare, offspring bear at least as much mutational load as their parents. Muller proposed this mechanism as one reason why sexual reproduction may be favored over asexual reproduction, as sexual organisms benefit from recombination and consequent elimination of deleterious mutations. The negative effect of accumulating irreversible deleterious mutations may not be prevalent in organisms which, while they reproduce asexually, also undergo other forms of recombination. This effect has also been observed in those regions of the genomes of sexual organisms that do not undergo recombination.
Evolutionary biology is the subfield of biology that studies the evolutionary processes that produced the diversity of life on Earth. It is also defined as the study of the history of life forms on Earth. Evolution holds that all species are related and gradually change over generations. In a population, the genetic variations affect the phenotypes of an organism. These changes in the phenotypes will be an advantage to some organisms, which will then be passed on to their offspring. Some examples of evolution in species over many generations are the peppered moth and flightless birds. In the 1930s, the discipline of evolutionary biology emerged through what Julian Huxley called the modern synthesis of understanding, from previously unrelated fields of biological research, such as genetics and ecology, systematics, and paleontology.
Gene duplication is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene. Gene duplications can arise as products of several types of errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements. Common sources of gene duplications include ectopic recombination, retrotransposition event, aneuploidy, polyploidy, and replication slippage.
Comparative genomics is a branch of biological research that examines genome sequences across a spectrum of species, spanning from humans and mice to a diverse array of organisms from bacteria to chimpanzees. This large-scale holistic approach compares two or more genomes to discover the similarities and differences between the genomes and to study the biology of the individual genomes. Comparison of whole genome sequences provides a highly detailed view of how organisms are related to each other at the gene level. By comparing whole genome sequences, researchers gain insights into genetic relationships between organisms and study evolutionary changes. The major principle of comparative genomics is that common features of two organisms will often be encoded within the DNA that is evolutionarily conserved between them. Therefore, Comparative genomics provides a powerful tool for studying evolutionary changes among organisms, helping to identify genes that are conserved or common among species, as well as genes that give unique characteristics of each organism. Moreover, these studies can be performed at different levels of the genomes to obtain multiple perspectives about the organisms.
Brian Charlesworth is a British evolutionary biologist at the University of Edinburgh, and editor of Biology Letters. Since 1997, he has been Royal Society Research Professor at the Institute of Evolutionary Biology (IEB) in Edinburgh. He has been married since 1967 to the British evolutionary biologist Deborah Charlesworth.
Wen-Hsiung Li is a Taiwanese-American scientist working in the fields of molecular evolution, population genetics, and genomics. He is currently the James Watson Professor of Ecology and Evolution at the University of Chicago and a Principal Investigator at the Institute of Information Science and Genomics Research Center, Academia Sinica, Taiwan.
Gilean Alistair Tristram McVean is a professor of statistical genetics at the University of Oxford, fellow of Linacre College, Oxford and co-founder and director of Genomics plc. He also co-chaired the 1000 Genomes Project analysis group.
Incomplete lineage sorting (ILS) (also referred to as hemiplasy, deep coalescence, retention of ancestral polymorphism, or trans-species polymorphism) is a phenomena in evolutionary biology and population genetics that results in discordance between species and gene trees. By contrast, complete lineage sorting results in concordant species and gene trees. ILS occurs in the context of a gene in an ancestral species which exists in multiple alleles. If a speciation event occurs in this situation, either complete lineage sorting will occur, and both daughter species will inherit all alleles of the gene in question, or incomplete lineage sorting will occur, when one or both daughter species inherits a subset of alleles present in the parental species. For example, if two alleles of a gene are present and a speciation event occurs, one of the two daughter species might inherit both alleles, but the second daughter species only inherits one of the two alleles. In this case, incomplete lineage sorting has occurred.
Peter D. Keightley is a British geneticist who is Professor of Evolutionary Genetics at the Institute of Evolutionary Biology in School of Biological Sciences at the University of Edinburgh.
The Extended Evolutionary Synthesis (EES) consists of a set of theoretical concepts argued to be more comprehensive than the earlier modern synthesis of evolutionary biology that took place between 1918 and 1942. The extended evolutionary synthesis was called for in the 1950s by C. H. Waddington, argued for on the basis of punctuated equilibrium by Stephen Jay Gould and Niles Eldredge in the 1980s, and was reconceptualized in 2007 by Massimo Pigliucci and Gerd B. Müller.
Epistasis is a phenomenon in genetics in which the effect of a gene mutation is dependent on the presence or absence of mutations in one or more other genes, respectively termed modifier genes. In other words, the effect of the mutation is dependent on the genetic background in which it appears. Epistatic mutations therefore have different effects on their own than when they occur together. Originally, the term epistasis specifically meant that the effect of a gene variant is masked by that of different gene.
In evolutionary biology, developmental bias refers to the production against or towards certain ontogenetic trajectories which ultimately influence the direction and outcome of evolutionary change by affecting the rates, magnitudes, directions and limits of trait evolution. Historically, the term was synonymous with developmental constraint, however, the latter has been more recently interpreted as referring solely to the negative role of development in evolution.
Csaba Pal is a Hungarian biologist at the Biological Research Centre (BRC) in Szeged Hungary. His laboratory is part of the Synthetic and Systems Biology Unit at BRC. His research is at the interface of evolution, antibiotic resistance and genome engineering and has published over 80 scientific publications in these areas.
Martin J. Lercher is a Professor of Computational Cell Biology at Heinrich Heine University Düsseldorf (HHU). His research focuses on developing computational methods to model single cells and complete plants, aiming to understand their organization and physiology based on physical and chemical constraints.
