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Adaptive Evolution In The Human Genome
Adaptive evolution results from the propagation of advantageous mutations through positive selection. This is the modern synthesis of the process which Darwin and Wallace originally identified as the mechanism of evolution. However, in the last half century, there has been considerable debate as to whether evolutionary changes at the molecular level are largely driven by natural selection or random genetic drift. Unsurprisingly, the forces which drive evolutionary changes in our own species’ lineage have been of particular interest. Quantifying adaptive evolution in the human genome gives insights into our own evolutionary history and helps to resolve this neutralist-selectionist debate. Identifying specific regions of the human genome that show evidence of adaptive evolution helps us find functionally significant genes, including genes important for human health, such as those associated with diseases. Methods The methods used to identify adaptive evolution are generally devise ...
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Adaptive Evolution
In biology, adaptation has three related meanings. Firstly, it is the dynamic evolutionary process of natural selection that fits organisms to their environment, enhancing their evolutionary fitness. Secondly, it is a state reached by the population during that process. Thirdly, it is a phenotypic trait or adaptive trait, with a functional role in each individual organism, that is maintained and has evolved through natural selection. Historically, adaptation has been described from the time of the ancient Greek philosophers such as Empedocles and Aristotle. In 18th and 19th century natural theology, adaptation was taken as evidence for the existence of a deity. Charles Darwin proposed instead that it was explained by natural selection. Adaptation is related to biological fitness, which governs the rate of evolution as measured by change in allele frequencies. Often, two or more species co-adapt and co-evolve as they develop adaptations that interlock with those of the oth ...
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Diversifying Selection
Disruptive selection, also called diversifying selection, describes changes in population genetics in which extreme values for a trait are favored over intermediate values. In this case, the variance of the trait increases and the population is divided into two distinct groups. In this more individuals acquire peripheral character value at both ends of the distribution curve. Overview Natural selection is known to be one of the most important biological processes behind evolution. There are many variations of traits, and some cause greater or lesser reproductive success of the individual. The effect of selection is to promote certain alleles, traits, and individuals that have a higher chance to survive and reproduce in their specific environment. Since the environment has a carrying capacity, nature acts on this mode of selection on individuals to let only the most fit offspring survive and reproduce to their full potential. The more advantageous the trait is the more comm ...
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Old World Monkey
Old World monkey is the common English name for a family of primates known taxonomically as the Cercopithecidae (). Twenty-four genera and 138 species are recognized, making it the largest primate family. Old World monkey genera include baboons (genus '' Papio''), red colobus (genus '' Piliocolobus'') and macaques (genus '' Macaca''). Common names for other Old World monkeys include the talapoin, guenon, colobus, douc (douc langur, genus ''Pygathrix''), vervet, gelada, mangabey (a group of genera), langur, mandrill, surili (''Presbytis''), patas, and proboscis monkey. Phylogenetically, they are more closely related to apes than to New World monkeys. They diverged from a common ancestor of New World monkeys around 45 to 55 million years ago. The smallest Old World monkey is the talapoin, with a head and body 34–37 cm in length, and weighing between 0.7 and 1.3 kg. The largest is the male mandrill, around 70 cm in length, and weighing up to 50 kg. Old ...
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Non-coding DNA
Non-coding DNA (ncDNA) sequences are components of an organism's DNA that do not encode protein sequences. Some non-coding DNA is transcribed into functional non-coding RNA molecules (e.g. transfer RNA, microRNA, piRNA, ribosomal RNA, and regulatory RNAs). Other functional regions of the non-coding DNA fraction include regulatory sequences that control gene expression; scaffold attachment regions; origins of DNA replication; centromeres; and telomeres. Some non-coding regions appear to be mostly nonfunctional such as introns, pseudogenes, intergenic DNA, and fragments of transposons and viruses. Fraction of non-coding genomic DNA In bacteria, the coding regions typically take up 88 % of the genome. The remaining 12 % consists largely of non-coding genes and regulatory sequences, which means that almost all of the bacterial genome has a function. The amount of coding DNA in eukaryrotes is usually a much smaller fraction of the genome because eukaryotic genomes contai ...
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Allele Frequency
Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in a population, expressed as a fraction or percentage. Specifically, it is the fraction of all chromosomes in the population that carry that allele over the total population or sample size. Microevolution is the change in allele frequencies that occurs over time within a population. Given the following: # A particular locus on a chromosome and a given allele at that locus # A population of ''N'' individuals with ploidy ''n'', i.e. an individual carries ''n'' copies of each chromosome in their somatic cells (e.g. two chromosomes in the cells of diploid species) # The allele exists in ''i'' chromosomes in the population then the allele frequency is the fraction of all the occurrences ''i'' of that allele and the total number of chromosome copies across the population, ''i''/(''nN''). The allele frequency is distinct from the genotype frequency, although they are ...
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Genetic Drift
Genetic drift, also known as allelic drift or the Wright effect, is the change in the frequency of an existing gene variant (allele) in a population due to random chance. Genetic drift may cause gene variants to disappear completely and thereby reduce genetic variation. It can also cause initially rare alleles to become much more frequent and even fixed. When few copies of an allele exist, the effect of genetic drift is more notable, and when many copies exist, the effect is less notable. In the middle of the 20th century, vigorous debates occurred over the relative importance of natural selection versus neutral processes, including genetic drift. Ronald Fisher, who explained natural selection using Mendelian genetics, held the view that genetic drift plays at most a minor role in evolution, and this remained the dominant view for several decades. In 1968, population geneticist Motoo Kimura rekindled the debate with his neutral theory of molecular evolution, which claims that ...
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Population Size
In population genetics and population ecology, population size (usually denoted ''N'') is the number of individual organisms in a population. Population size is directly associated with amount of genetic drift, and is the underlying cause of effects like population bottlenecks and the founder effect. Genetic drift is the major source of decrease of genetic diversity within populations which drives fixation and can potentially lead to speciation events. Genetic drift Of the five conditions required to maintain Hardy-Weinberg Equilibrium, infinite population size will always be violated; this means that some degree of genetic drift is always occurring. Smaller population size leads to increased genetic drift, it has been hypothesized that this gives these groups an evolutionary advantage for acquisition of genome complexity. An alternate hypothesis posits that while genetic drift plays a larger role in small populations developing complexity, selection is the mechanism by which la ...
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Drosophila
''Drosophila'' () is a genus of flies, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or (less frequently) pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species to linger around overripe or rotting fruit. They should not be confused with the Tephritidae, a related family, which are also called fruit flies (sometimes referred to as "true fruit flies"); tephritids feed primarily on unripe or ripe fruit, with many species being regarded as destructive agricultural pests, especially the Mediterranean fruit fly. One species of ''Drosophila'' in particular, ''D. melanogaster'', has been heavily used in research in genetics and is a common model organism in developmental biology. The terms "fruit fly" and "''Drosophila''" are often used synonymously with ''D. melanogaster'' in modern biological literature. The entire genus, however, contains more than 1,500 species and is very diverse in appearance, be ...
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Polymorphism (biology)
In biology, polymorphism is the occurrence of two or more clearly different morphs or forms, also referred to as alternative ''phenotypes'', in the population of a species. To be classified as such, morphs must occupy the same habitat at the same time and belong to a panmictic population (one with random mating). Ford E.B. 1965. ''Genetic polymorphism''. Faber & Faber, London. Put simply, polymorphism is when there are two or more possibilities of a trait on a gene. For example, there is more than one possible trait in terms of a jaguar's skin colouring; they can be light morph or dark morph. Due to having more than one possible variation for this gene, it is termed 'polymorphism'. However, if the jaguar has only one possible trait for that gene, it would be termed "monomorphic". For example, if there was only one possible skin colour that a jaguar could have, it would be termed monomorphic. The term polyphenism can be used to clarify that the different forms arise from the s ...
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Locus (genetics)
In genetics, a locus (plural loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygous. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the specific locus or loci responsible for producing a particular phenotype or biological trait. Association mapping, also known as "linkage disequilibrium mapping", is a method of ma ...
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Coding Region
The coding region of a gene, also known as the coding sequence (CDS), is the portion of a gene's DNA or RNA that codes for protein. Studying the length, composition, regulation, splicing, structures, and functions of coding regions compared to non-coding regions over different species and time periods can provide a significant amount of important information regarding gene organization and evolution of prokaryotes and eukaryotes. This can further assist in mapping the human genome and developing gene therapy. Definition Although this term is also sometimes used interchangeably with exon, it is not the exact same thing: the exon is composed of the coding region as well as the 3' and 5' untranslated regions of the RNA, and so therefore, an exon would be partially made up of coding regions. The 3' and 5' untranslated regions of the RNA, which do not code for protein, are termed non-coding regions and are not discussed on this page. There is often confusion between coding region ...
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Human Genome
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly-repetitive sequences. Introns make up a large percentage of non-coding DNA. ...
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