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Friday, November 11, 2022

Devolution (biology)

From Wikipedia, the free encyclopedia

Devolution, de-evolution, or backward evolution (not to be confused with dysgenics) is the notion that species can revert to supposedly more primitive forms over time. The concept relates to the idea that evolution has a purpose (teleology) and is progressive (orthogenesis), for example that feet might be better than hooves or lungs than gills. However, evolutionary biology makes no such assumptions, and natural selection shapes adaptations with no foreknowledge of any kind. It is possible for small changes (such as in the frequency of a single gene) to be reversed by chance or selection, but this is no different from the normal course of evolution and as such de-evolution is not compatible with a proper understanding of evolution due to natural selection.

In the 19th century, when belief in orthogenesis was widespread, zoologists (such as Ray Lankester and Anton Dohrn) and the palaeontologists Alpheus Hyatt and Carl H. Eigenmann advocated the idea of devolution. The concept appears in Kurt Vonnegut's 1985 novel Galápagos, which portrays a society that has evolved backwards to have small brains.

Dollo's law of irreversibility, first stated in 1893 by the palaeontologist Louis Dollo, denies the possibility of devolution. The evolutionary biologist Richard Dawkins explains Dollo's law as being simply a statement about the improbability of evolution's following precisely the same path twice.

The term "devolution" and its associated concepts never were prominent in biology and now are at most of historical interest, except where they have been adopted by creationists.

Context

Lamarck's theory of evolution involved a complexifying force that progressively drives animal body plans towards higher levels, creating a ladder of phyla, as well as an adaptive force that causes animals with a given body plan to adapt to circumstances. The idea of progress in such theories permits the opposite idea of decay, seen in devolution.
 

The idea of devolution is based on the presumption of orthogenesis, the view that evolution has a purposeful direction towards increasing complexity. Modern evolutionary theory, beginning with Darwin at least, poses no such presumption, and the concept of evolutionary change is independent of either any increase in complexity of organisms sharing a gene pool, or any decrease, such as in vestigiality or in loss of genes. Earlier views that species are subject to "cultural decay", "drives to perfection", or "devolution" are practically meaningless in terms of current (neo-)Darwinian theory. Early scientific theories of transmutation of species such as Lamarckism perceived species diversity as a result of a purposeful internal drive or tendency to form improved adaptations to the environment. In contrast, Darwinian evolution and its elaboration in the light of subsequent advances in biological research, have shown that adaptation through natural selection comes about when particular heritable attributes in a population happen to give a better chance of successful reproduction in the reigning environment than rival attributes do. By the same process less advantageous attributes are less "successful"; they decrease in frequency or are lost completely. Since Darwin's time it has been shown how these changes in the frequencies of attributes occur according to the mechanisms of genetics and the laws of inheritance originally investigated by Gregor Mendel. Combined with Darwin's original insights, genetic advances led to what has variously been called the modern evolutionary synthesis or the neo-Darwinism of the 20th century. In these terms evolutionary adaptation may occur most obviously through the natural selection of particular alleles. Such alleles may be long established, or they may be new mutations. Selection also might arise from more complex epigenetic or other chromosomal changes, but the fundamental requirement is that any adaptive effect must be heritable.

The concept of devolution on the other hand, requires that there be a preferred hierarchy of structure and function, and that evolution must mean "progress" to "more advanced" organisms. For example, it could be said that "feet are better than hooves" or "lungs are better than gills", so their development is "evolutionary" whereas change to an inferior or "less advanced" structure would be called "devolution". In reality an evolutionary biologist defines all heritable changes to relative frequencies of the genes or indeed to epigenetic states in the gene pool as evolution. All gene pool changes that lead to increased fitness in terms of appropriate aspects of reproduction are seen as (neo-)Darwinian adaptation because, for the organisms possessing the changed structures, each is a useful adaptation to their circumstances. For example, hooves have advantages for running quickly on plains, which benefits horses, and feet offer advantages in climbing trees, which some ancestors of humans did.

The concept of devolution as regress from progress relates to the ancient ideas that either life came into being through special creation or that humans are the ultimate product or goal of evolution. The latter belief is related to anthropocentrism, the idea that human existence is the point of all universal existence. Such thinking can lead on to the idea that species evolve because they "need to" in order to adapt to environmental changes. Biologists refer to this misconception as teleology, the idea of intrinsic finality that things are "supposed" to be and behave a certain way, and naturally tend to act that way to pursue their own good. From a biological viewpoint, in contrast, if species evolve it is not a reaction to necessity, but rather that the population contains variations with traits that favour their natural selection. This view is supported by the fossil record which demonstrates that roughly ninety-nine percent of all species that ever lived are now extinct.

People thinking in terms of devolution commonly assume that progress is shown by increasing complexity, but biologists studying the evolution of complexity find evidence of many examples of decreasing complexity in the record of evolution. The lower jaw in fish, reptiles and mammals has seen a decrease in complexity, if measured by the number of bones. Ancestors of modern horses had several toes on each foot; modern horses have a single hooved toe. Modern humans may be evolving towards never having wisdom teeth, and already have lost most of the tail found in many other mammals - not to mention other vestigial structures, such as the vermiform appendix or the nictitating membrane. In some cases, the level of organization of living creatures can also “shift” downwards (e.g., the loss of multicellularity in some groups of protists and fungi).

A more rational version of the concept of devolution, a version that does not involve concepts of "primitive" or "advanced" organisms, is based on the observation that if certain genetic changes in a particular combination (sometimes in a particular sequence as well) are precisely reversed, one should get precise reversal of the evolutionary process, yielding an atavism or "throwback", whether more or less complex than the ancestors where the process began. At a trivial level, where just one or a few mutations are involved, selection pressure in one direction can have one effect, which can be reversed by new patterns of selection when conditions change. That could be seen as reversed evolution, though the concept is not of much interest because it does not differ in any functional or effective way from any other adaptation to selection pressures.

History

Bénédict Morel (1809–1873) suggested a link between the environment and social degeneration.
 

The concept of degenerative evolution was used by scientists in the 19th century, at this time it was believed by most biologists that evolution had some kind of direction.

In 1857 the physician Bénédict Morel, influenced by Lamarckism, claimed that environmental factors such as taking drugs or alcohol would produce social degeneration in the offspring of those individuals, and would revert those offspring to a primitive state. Morel, a devout Catholic, had believed that mankind had started in perfection, contrasting modern humanity to the past. Morel claimed there had been "Morbid deviation from an original type". His theory of devolution was later advocated by some biologists.

According to Roger Luckhurst:

Darwin soothed readers that evolution was progressive, and directed towards human perfectibility. The next generation of biologists were less confident or consoling. Using Darwin's theory, and many rival biological accounts of development then in circulation, scientists suspected that it was just as possible to devolve, to slip back down the evolutionary scale to prior states of development.

One of the first biologists to suggest devolution was Ray Lankester, he explored the possibility that evolution by natural selection may in some cases lead to devolution, an example he studied was the regressions in the life cycle of sea squirts. Lankester discussed the idea of devolution in his book Degeneration: A Chapter in Darwinism (1880). He was a critic of progressive evolution, pointing out that higher forms existed in the past which have since degenerated into simpler forms. Lankester argued that "if it was possible to evolve, it was also possible to devolve, and that complex organisms could devolve into simpler forms or animals".

Anton Dohrn also developed a theory of degenerative evolution based on his studies of vertebrates. According to Dohrn many chordates are degenerated because of their environmental conditions. Dohrn claimed cyclostomes such as lampreys are degenerate fish as there is no evidence their jawless state is an ancestral feature but is the product of environmental adaptation due to parasitism. According to Dohrn if cyclostomes would devolve further then they would resemble something like an Amphioxus.

The historian of biology Peter J. Bowler has written that devolution was taken seriously by proponents of orthogenesis and others in the late 19th century who at this period of time firmly believed that there was a direction in evolution. Orthogenesis was the belief that evolution travels in internally directed trends and levels. The paleontologist Alpheus Hyatt discussed devolution in his work, using the concept of racial senility as the mechanism of devolution. Bowler defines racial senility as "an evolutionary retreat back to a state resembling that from which it began."

Hyatt who studied the fossils of invertebrates believed that up to a point ammonoids developed by regular stages up until a specific level but would later due to unfavourable conditions descend back to a previous level, this according to Hyatt was a form of lamarckism as the degeneration was a direct response to external factors. To Hyatt after the level of degeneration the species would then become extinct, according to Hyatt there was a "phase of youth, a phase of maturity, a phase of senility or degeneration foreshadowing the extinction of a type". To Hyatt the devolution was predetermined by internal factors which organisms can neither control or reverse. This idea of all evolutionary branches eventually running out of energy and degenerating into extinction was a pessimistic view of evolution and was unpopular amongst many scientists of the time.

Carl H. Eigenmann an ichthyologist wrote Cave vertebrates of America: a study in degenerative evolution (1909) in which he concluded that cave evolution was essentially degenerative. The entomologist William Morton Wheeler and the Lamarckian Ernest MacBride (1866–1940) also advocated degenerative evolution. According to Macbride invertebrates were actually degenerate vertebrates, his argument was based on the idea that "crawling on the seabed was inherently less stimulating than swimming in open waters."

Degeneration theory

Johan Friedrich Blumenbach 1752 - 1840
 

Johann Friedrich Blumenbach and other monogenists such as Georges-Louis Leclerc, Comte de Buffon were believers in the "Degeneration theory" of racial origins the theory claims that races can degenerate into "primitive" forms. Blumenbach claimed that Adam and Eve were white and that other races came about by degeneration from environmental factors such as the sun and poor diet. Buffon believed that the degeneration could be reversed if proper environmental control was taken and that all contemporary forms of man could revert to the original Caucasian race.

Blumenbach claimed Negroid pigmentation arose because of the result of the heat of the tropical sun. The cold wind caused the tawny colour of the Eskimos and the Chinese were fair skinned compared to the other Asian stocks because they kept mostly in towns protected from environmental factors.

According to Blumenbach there are five races all belonging to a single species: Caucasian, Mongolian, Ethiopian, American and Malay. Blumenbach however stated:

I have allotted the first place to the Caucasian because this stock displays the most beautiful race of men.

According to Blumenbach the other races are supposed to have degenerated from the Caucasian ideal stock. Blumenbach denied that his "Degeneration theory" was racist, he also wrote three essays claiming non-white peoples are capable of excelling in arts and sciences in reaction against racialists of his time who believed they couldn't.

Creationist use

According to Christian creationists, devolution is:

A theory of origins based on scripture which begins with the ultimate complexity of all living things at the time of creation. This was followed by degeneration and the break down of all living things on the genetic level beginning at the Curse (Genesis 3) and continuing to this day with increased momentum.

The term was used in the play Inherit the Wind (a parable that fictionalizes the 1925 Scopes "Monkey" Trial), when the character of Matthew Brady (representative of William Jennings Bryan) argued that "Ladies and gentleman, devolution is not a theory but a cold fact ... the ape devolved from man", mocking evolutionary theory by offering an alternative he considers just as plausible. During the Scopes Trial itself, a report in The New York Times said "After flocking to view the monkeys, Dayton has decided that it was not man who evolved from the anthropoid, but the anthropoid which devolved from man; and it points now at the two chimpanzees and the "missing link" to prove the assertion". The suggestion of ape degenerating from "man" had already been brought up by the early young-earth creationist George McReady Price in a work published before the trial:

Accordingly, by every just rule of comparison and analogy, we may well declare that if there is any blood relationship between man and the anthropoid apes, it is the latter which have degenerated from the former, instead of the former having developed from the latter. I do not say that this is the true solution of this enigma; but I do say that there is far more scientific evidence in favour of this hypothesis than there ever has been in favour of the long popular theory that man is a developed animal.

An early creationist to discuss devolution was the ornithologist Douglas Dewar, writing about the subject of the fossil record for the carboniferous period Dewar wrote:

A few of the carboniferous insects were larger than any now existing; one of the dragon-flies had a wing-span of 28 inches. This suggests devolution rather than evolution!

The Young Earth creationist Ken Ham claims Adam and Eve were made into a state of perfection, with perfect DNA, no mistakes or mutations and that because of man sinning against God in Genesis of the Bible, that God cursed the ground and animals and sentenced man to die. Ham claims this is where mutations come from, and the incredible amount of genetic information that God had created at the beginning has been devolving ever since; according to Ham organisms in nature are losing genetic information. Creationists like Ham claim that mutations lead to a loss of genetic information and this is evidence for devolution. Ken Ham for example has stated:

Observations confirm that mutations overwhelmingly cause a loss of information, not a net gain, as evolution requires.

Young Earth creationist Joseph Mastropaolo, argues that "Change over time, 'definition one' of evolution, actually describes devolution to extinction, the exact opposite of evolution.... actual epidemiological data from human genetic disorders and fatal birth defects, identify 'natural selection,' the alleged 'primary mechanism' for evolution, as actually a mechanism for devolution to extinction, the exact opposite of evolution." and elsewhere, "Evolution is the development of an organism from its chemicals or primitive state to its present state. Devolution is the sequence toward greater simplicity or disappearance or degeneration."

John C. Sanford, a plant geneticist and creationist, has argued for devolution in a 2005 book entitled Genetic Entropy & the Mystery of the Genome; he claims that the genome is deteriorating and therefore could not have evolved in the way specified by the Modern evolutionary synthesis. Sanford has published two peer reviewed papers detailing computer simulations that model genetic entropy.

The creationist author Lee Spetner is a critic of the role of mutations in the modern evolutionary synthesis, he has argued in his book Not by Chance: Shattering the Modern Theory of Evolution that mutations cause devolution. Peter Stoner, an old earth creationist, claimed that the universe was immensely old, writing on astronomy he wrote that "every star is losing energy and mass", he claimed that the second law of thermodynamics proves "cosmic devolution". Brian Regal associates devolution with the work of dentist and creationist Jack Cuozzo. Cuozzo in his book Buried Alive (1998) claims that Neanderthal dentition proves that the Neanderthals lived much longer than modern humans and that modern humans have devolved, according to Cuozzo "it seems as if human jaws are becoming smaller over time".

The concept of devolution is found in the teachings of Hindu creationism. Michael Cremo of ISKCON has authored a book titled Human Devolution: A Vedic alternative to Darwin's theory, Cremo suggests that Darwinian evolution should be replaced with "devolution" from the original unity with Brahman.

Examples of devolution cited by creationists, include vestigial organs, Stickleback, Amblyopsidae and the Greta oto. Evolutionary biologists point out that examples such as this are not evidence for devolution and the creationists have misunderstood the mechanisms of evolution.

In literature and popular culture

The band Devo bases their name and much of their early song subjects on a cynical take on human devolution.

Speculative evolution sometimes includes devolution, including transhuman and posthuman species.

DC Comics' Aquaman has one of the seven races of Atlantis called The Trench, similar to the Grindylows of British folklore, Cthulhu Mythos' Deep One, Universal Classic Monsters' Gill-man, and Fallout's Mirelurk. They were regressed to survive in the deepest, darkest places on the bottom of ocean trenches where they hide — hence their name — and are photophobic when in contact with light.

LEGO's 2009 Bionicle sets include Glatorian and Agori. One of the six tribes includes The Sand Tribe, which the Glatorian and Agori of that tribe are turned into scorpion-like beasts — the Vorox and the Zesk — by their creators, The Great Beings; whom are also of the same species as Glatorian and Agori.

Pierre Boulle's 1963 novel Planet of the Apes depicts humans as primitive animal-like beings which the apes take over as a dominant species and forming their own societies; orangutans are the politicians, gorillas are the security and police, and chimpanzees are the scientists, scholars, inventors and explorers.

Kurt Vonnegut's 1985 novel Galápagos is set a million years in the future, where humans have "devolved" to have much smaller brains.

Robert E. Howard, in The Hyborian Age, an essay on his Conan the Barbarian universe, stated that the Atlanteans devolved into "ape-men", and had once been the Picts (distinct from the actual people; his are closely modeled on Algonquian Native Americans).

H.P. Lovecraft's 1924 short story The Rats in the Walls also describes devolved humans.

Jonathan Swift's 1726 novel Gulliver's Travels contains a story about Yahoos, a kind of human-like creature turned into a savage, animal-like the state of society in which the Houyhnhnms — descendants of horses — are the dominant species.

Helena Blavatsky, founder of Theosophy, believed, contrary to standard evolutionary theory, that apes had devolved from humans rather than the opposite, through affected people "putting themselves on the animal level".

Fitness (biology)

From Wikipedia, the free encyclopedia

Fitness (often denoted or ω in population genetics models) is the quantitative representation of individual reproductive success. It is also equal to the average contribution to the gene pool of the next generation, made by the same individuals of the specified genotype or phenotype. Fitness can be defined either with respect to a genotype or to a phenotype in a given environment or time. The fitness of a genotype is manifested through its phenotype, which is also affected by the developmental environment. The fitness of a given phenotype can also be different in different selective environments.

With asexual reproduction, it is sufficient to assign fitnesses to genotypes. With sexual reproduction, recombination scrambles alleles into different genotypes every generation; in this case, fitness values can be assigned to alleles by averaging over possible genetic backgrounds. Natural selection tends to make alleles with higher fitness more common over time, resulting in Darwinian evolution.

The term "Darwinian fitness" can be used to make clear the distinction with physical fitness. Fitness does not include a measure of survival or life-span; Herbert Spencer's well-known phrase "survival of the fittest" should be interpreted as: "Survival of the form (phenotypic or genotypic) that will leave the most copies of itself in successive generations."

Inclusive fitness differs from individual fitness by including the ability of an allele in one individual to promote the survival and/or reproduction of other individuals that share that allele, in preference to individuals with a different allele. One mechanism of inclusive fitness is kin selection.

Fitness as propensity

Fitness is often defined as a propensity or probability, rather than the actual number of offspring. For example, according to Maynard Smith, "Fitness is a property, not of an individual, but of a class of individuals—for example homozygous for allele A at a particular locus. Thus the phrase ’expected number of offspring’ means the average number, not the number produced by some one individual. If the first human infant with a gene for levitation were struck by lightning in its pram, this would not prove the new genotype to have low fitness, but only that the particular child was unlucky."

Alternatively, "the fitness of the individual—having an array x of phenotypes—is the probability, s(x), that the individual will be included among the group selected as parents of the next generation."

Models of fitness

In order to avoid the complications of sex and recombination, the concept of fitness is restricted to an asexual population without genetic recombination. Thus, fitnesses can be assigned directly to genotypes and measured. There are two commonly used measures of fitness – absolute fitness and relative fitness.

Absolute fitness

The absolute fitness () of a genotype is defined as the proportional change in the abundance of that genotype over one generation attributable to selection. For example, if is the abundance of a genotype in generation in an infinitely large population (so that there is no genetic drift), and neglecting the change in genotype abundances due to mutations, then

.

An absolute fitness larger than 1 indicates growth in that genotype's abundance; an absolute fitness smaller than 1 indicates decline.

Relative fitness

Whereas absolute fitness determines changes in genotype abundance, relative fitness () determines changes in genotype frequency. If is the total population size in generation , and the relevant genotype's frequency is , then

,

where is the mean relative fitness in the population (again setting aside changes in frequency due to drift and mutation). Relative fitnesses only indicate the change in prevalence of different genotypes relative to each other, and so only their values relative to each other are important; relative fitnesses can be any nonnegative number, including 0. It is often convenient to choose one genotype as a reference and set its relative fitness to 1. Relative fitness is used in the standard Wright–Fisher and Moran models of population genetics.

Absolute fitnesses can be used to calculate relative fitness, since (we have used the fact that , where is the mean absolute fitness in the population). This implies that , or in other words, relative fitness is proportional to . It is not possible to calculate absolute fitnesses from relative fitnesses alone, since relative fitnesses contain no information about changes in overall population abundance .

Assigning relative fitness values to genotypes is mathematically appropriate when two conditions are met: first, the population is at demographic equilibrium, and second, individuals vary in their birth rate, contest ability, or death rate, but not a combination of these traits.

Change in genotype frequencies due to selection

Increase in frequency over time of genotype , which has a 1% greater relative fitness than the other genotype present, .

The change in genotype frequencies due to selection follows immediately from the definition of relative fitness,

.

Thus, a genotype's frequency will decline or increase depending on whether its fitness is lower or greater than the mean fitness, respectively.

In the particular case that there are only two genotypes of interest (e.g. representing the invasion of a new mutant allele), the change in genotype frequencies is often written in a different form. Suppose that two genotypes and have fitnesses and , and frequencies and , respectively. Then , and so

.

Thus, the change in genotype 's frequency depends crucially on the difference between its fitness and the fitness of genotype . Supposing that is more fit than , and defining the selection coefficient by , we obtain

,

where the last approximation holds for . In other words, the fitter genotype's frequency grows approximately logistically.

History

The British sociologist Herbert Spencer coined the phrase "survival of the fittest" in his 1864 work Principles of Biology to characterise what Charles Darwin had called natural selection.

The British biologist J.B.S. Haldane was the first to quantify fitness, in terms of the modern evolutionary synthesis of Darwinism and Mendelian genetics starting with his 1924 paper A Mathematical Theory of Natural and Artificial Selection. The next further advance was the introduction of the concept of inclusive fitness by the British biologist W.D. Hamilton in 1964 in his paper on The Genetical Evolution of Social Behaviour.

Genetic load

Genetic load measures the average fitness of a population of individuals, relative either to a theoretical genotype of optimal fitness, or relative to the most fit genotype actually present in the population. Consider n genotypes , which have the fitnesses and the genotype frequencies respectively. Ignoring frequency-dependent selection, then genetic load () may be calculated as:

Genetic load may increase when deleterious mutations, migration, inbreeding, or outcrossing lower mean fitness. Genetic load may also increase when beneficial mutations increase the maximum fitness against which other mutations are compared; this is known as the substitutional load or cost of selection.

Inbreeding depression

From Wikipedia, the free encyclopedia
 
Inbreeding depression in Delphinium nelsonii. A. Overall fitness of progeny cohorts and the B. progeny lifespan were all lower when progeny were the result of crosses with pollen taken close to a receptor plant.

Inbreeding depression is the reduced biological fitness which has the potential to result from inbreeding (the breeding of related individuals). Biological fitness refers to an organism's ability to survive and perpetuate its genetic material. Inbreeding depression is often the result of a population bottleneck. In general, the higher the genetic variation or gene pool within a breeding population, the less likely it is to suffer from inbreeding depression, though inbreeding and outbreeding depression can simultaneously occur.

Inbreeding depression seems to be present in most groups of organisms, but varies across mating systems. Hermaphroditic species often exhibit lower degrees of inbreeding depression than outcrossing species, as repeated generations of selfing is thought to purge deleterious alleles from populations. For example, the outcrossing nematode (roundworm) Caenorhabditis remanei has been demonstrated to suffer severely from inbreeding depression, unlike its hermaphroditic relative C. elegans, which experiences outbreeding depression.

Mechanisms

Example of inbreeding depression

Inbreeding (i.e., breeding between closely related individuals) results in more recessive traits manifesting themselves, as the genomes of pair-mates are more similar. Recessive traits can only occur in an offspring if present in both parents' genomes. The more genetically similar the parents are, the more often recessive traits appear in their offspring. This normally has a positive effect, as most genes are undergoing purifying selection (the homozygous state is favored). However, for very closely related individuals, there is an increased likelihood of homozygous deleterious genes in the offspring which can result in unfit individuals. For the alleles that confer an advantage in the heterozygous and/or homozygous-dominant state, the fitness of the homozygous-recessive state may even be zero (meaning sterile or unviable offspring).

An example of inbreeding depression is shown to the right. In this case, a is the recessive allele which has negative effects. In order for the a phenotype to become active, the gene must end up as homozygous aa because in the geneotype Aa, the A takes dominance over the a and the a does not have any effect. Some recessive genes result in detrimental phenotypes by causing the organism to be less fit to its natural environment.

Another mechanism responsible for inbreeding depression is the fitness advantage of heterozygosity, which is known as overdominance. This can lead to reduced fitness of a population with many homozygous genotypes, even if they are not deleterious or recessive. Here, even the dominant alleles result in reduced fitness if present homozygously (see also hybrid vigour).

Overdominance is rare in nature. For practical applications, e.g. in livestock breeding, the former is thought to be more significant – it may yield completely unviable offspring (meaning outright failure of a pedigree), while the latter can only result in relatively reduced fitness.

Natural selection

Natural selection cannot effectively remove all deleterious recessive genes from a population for several reasons. First, deleterious genes arise constantly through de novo mutation within a population. Second, most offspring will have some deleterious traits, so few will be more fit for survival than the others. Different deleterious traits are extremely unlikely to equally affect reproduction – an especially disadvantageous recessive trait expressed in a homozygous recessive individual is likely to eliminate itself, naturally limiting the expression of its phenotype. Third, recessive deleterious alleles will be "masked" by heterozygosity, and so in a dominant-recessive trait, heterozygotes will not be selected against.

When recessive deleterious alleles occur in the heterozygous state, where their potentially deleterious expression is masked by the corresponding wild-type allele, this masking phenomenon is referred to as complementation (see complementation (genetics)).

In general, sexual reproduction in eukaryotes has two fundamental aspects: genetic recombination during meiosis, and outcrossing. It has been proposed that these two aspects have two natural selective advantages respectively. A proposed adaptive advantage of meiosis is that it facilitates recombinational repair of DNA damages that are otherwise difficult to repair (see DNA repair as the adaptive advantage of meiosis). A proposed adaptive advantage of outcrossing is complementation, which is the masking of deleterious recessive alleles (see hybrid vigor or heterosis). The selective advantage of complementation may largely account for avoidance of inbreeding (see kin recognition), though it is unlikely that animals avoid inbreeding.

Management

Hybridization as a conservation effort is be appropriate if the population has lost "substantial genetic variation through genetic drift and the detrimental effects of inbreeding depression are apparent" and a similar population should be used. Different populations of the same species have different deleterious traits, and therefore their cross breeding is less likely to result in homozygosity at most loci in the offspring. This is known as outbreeding enhancement, which can be performed in extreme cases of severe inbreeding by conservation managers and zoo captive breeders to prevent inbreeding depression.

However, intermixing two different populations can give rise to unfit polygenic traits in outbreeding depression (i.e. yielding offspring which lack the genetic adaptations to specific environmental conditions). These, then, will have a lowered fitness than pure-bred individuals of a particular subspecies that has adapted to its local environment.

In humans

Inbreeding may have both detrimental and beneficial effects. The biological effects of inbreeding depression in humans can on occasion be confounded by socioeconomic and cultural influences on reproductive behavior. Studies in human populations have shown that age at marriage, duration of marriage, illiteracy, contraceptive use, and reproductive compensation are the major determinants of apparent fertility, even amongst populations with a high proportion of consanguinous unions. However, several small effects on increased mortality, longer inter-birth intervals and reduced overall productivity have been noted in certain isolated populations, though other studies show increased fitness of offspring and no effect on lifespan past the 2nd cousin level.

Charles Darwin was one of the first scientists to demonstrate the effects of inbreeding depression, through numerous experiments on plants. Darwin's wife, Emma, was his first cousin, and he was concerned about the impact of inbreeding on his ten children, three of whom died at age ten or younger; three others had childless long-term marriages.

Humans do not seek to completely minimize inbreeding, but rather to maintain an optimal amount of inbreeding vs. outbreeding. Close inbreeding reduces fitness through inbreeding depression, but some inbreeding brings benefits. Indeed, inbreeding "increases the speed of selection of beneficial recessive and co-dominant alleles, e.g. those that protect against diseases."

Factors reducing inbreeding depression

Whilst inbreeding depression has been found to occur in almost all sufficiently studied species, some taxa, most notably some angiosperms, appear to suffer lower fitness costs than others in inbred populations. Three mechanisms appear to be responsible for this: purging, differences in ploidy, and selection for heterozygosity. It must be cautioned that some studies failing to show an absence of inbreeding depression in certain species can arise from small sample sizes or where the supposedly outbred control group is already suffering inbreeding depression, which frequently occurs in populations that have undergone a recent bottleneck, such as those of the naked mole rat.

Purging selection

Purging selection occurs where the phenotypes of deleterious recessive alleles are exposed through inbreeding, and thus can be selected against. This can lead to such detrimental mutations being removed from the population, and has been demonstrated to occur rapidly where the recessive alleles have a lethal effect. The efficiency of purging will depend on the relationship between the magnitude of the deleterious effect that is unmasked in the homozygotes and the importance of genetic drift, so that purging is weaker for non-lethal than for recessive lethal alleles. For very small populations, drift has a strong influence, which can cause the fixation of sublethal alleles under weak selection. The fixation of a single allele for a specific gene can also reduce fitness where heterozygote advantage was previously present (i.e., where heterozygous individuals have higher fitness than homozygotes of either allele), although this phenomenon seems to make a usually small contribution to inbreeding depression. Although naturally occurring, purging can be important for population survival, deliberately attempting to purge deleterious mutations from a population is not generally recommended as a technique to improve the fitness of captive bred animals. In plants, genetic load can be assessed through a test analogous to an inbreeding depression test called an Autogamy depression test.

Polyploidy

Many angiosperms (flowering plants) can self-fertilise for several generations and suffer little from inbreeding depression. This is very useful for species which disperse widely and can therefore find themselves growing in a novel environment with no conspecifics present. Polyploidy (having more than two paired sets of each chromosome), which is prevalent in angiosperms, ferns and a select few animal taxa, accounts for this. By having several copies of a chromosome, as opposed to two, homozygosity is less likely to occur in inbred offspring. This means that recessive deleterious alleles are not expressed as frequently as with many copies of a chromosome; it is more likely that at least one will contain a functional allele.

Selection for heterozygosity

Selection for heterozygosity is rare, as lost loci undergo purifying selection for homozygous loci. Inbreeding depression has also been found to occur more gradually than predicted in some wild populations, such as in the highly inbred population of Scandinavian wolves. This appears to be due to a selection pressure for more heterozygous individuals, which generally are in better condition and so are more likely to become one of the few animals to breed and produce offspring.

Consanguinity

From Wikipedia, the free encyclopedia
 
One legal definition of degrees of consanguinity. The number next to each box in the table indicates the degree of relationship relative to the given person.

Consanguinity ("blood relation", from Latin consanguinitas) is the characteristic of having a kinship with another person (being descended from a common ancestor). Many jurisdictions have laws prohibiting people who are related by blood from marrying or having sexual relations with each other. The degree of consanguinity that gives rise to this prohibition varies from place to place. Such rules are also used to determine heirs of an estate according to statutes that govern intestate succession, which also vary from jurisdiction to jurisdiction. In some places and time periods, cousin marriage is allowed or even encouraged; in others, it is taboo, and considered to be incest.

The degree of relative consanguinity can be illustrated with a consanguinity table in which each level of lineal consanguinity (generation or meiosis) appears as a row, and individuals with a collaterally consanguineous relationship share the same row. The Knot System is a numerical notation that describes consanguinity using the Ahnentafel numbers of shared ancestors.

Legal definitions

Consanguinity of the kings of France as shown in Arbor genealogiae regum Francorum (Bernard Gui, early 14th century).

Modern secular law

The degree of kinship between two people may give rise to several legal issues. Some laws prohibit sexual relations between closely-related people, referred to as incestuous. Laws may also bar marriage between closely-related people, which are almost universally prohibited to the second degree of consanguinity. Some jurisdictions forbid marriage between first cousins, while others do not. Marriage with aunts and uncles (avunculate marriage) is legal in several countries.

Consanguinity is also relevant to inheritance, particularly with regard to intestate succession. In general, laws tend to favor inheritance by persons closely related to the deceased. Some jurisdictions ban citizens from service on a jury on the basis of consanguinity as well as affinity with persons involved in the case. In many countries, laws prohibiting nepotism ban employment of, or certain kinds of contracts with, the near relations of public officers or employees.

Religious and traditional law

Christianity

Under Roman civil law, which the early canon law of the Catholic Church followed, couples were forbidden to marry if they were within four degrees of consanguinity. Around the ninth century the church raised the number of prohibited degrees to seven and changed the method by which they were calculated; instead of the former Roman practice of counting each generational link up to the common ancestor and then down again to the proposed spouse as a single degree, the new method computed consanguinity only by counting back the number of generations to the common ancestor. Intermarriage was now prohibited to anyone more closely related than seventh cousins, which meant that in particular the nobility struggled to find partners to marry, the pool of non-related prospective spouses having become substantially smaller. They had to either defy the church's position or look elsewhere for eligible marriage candidates. In the Roman Catholic Church, unknowingly marrying a closely consanguineous blood relative was grounds for a declaration of nullity, but during the eleventh and twelfth centuries dispensations were granted with increasing frequency due to the thousands of persons encompassed in the prohibition at seven degrees and the hardships this posed for finding potential spouses.

In 1215 the Fourth Lateran Council made what they believed was a necessary change to canon law reducing the number of prohibited degrees of consanguinity from seven back to four, but retaining the later method of calculating degrees. After 1215, the general rule was that fourth cousins could marry without dispensation, greatly reducing the need for dispensations. In fourteenth century England, for example, papal dispensations for annulments due to consanguinity (and affinity) were relatively few.

The ban on marriage to minor degrees of relationship imposed by the Roman Catholic Church was met with heavy criticism in the Croatian society in the 11th century, which led to a schism in the Croatian church.

Among the Christian Habesha highlanders of Ethiopia and Eritrea (the predominantly orthodox Christian Amhara and Tigray-Tigrinya), it is a tradition to be able to recount one's paternal ancestors at least seven generations away starting from early childhood, because "those with a common patrilineal ancestor less than seven generations away are considered 'brother and sister' and may not marry." The rule is less strict on the mother's side, where the limit is about four generations back, but still determined patrilinearly. This rule does not apply to Muslims or other ethnic groups.

Islam

The Quran at 4:22–24 states. "Forbidden to you in marriage are: your mothers, your daughters, your sisters, your father's sisters, your mother's sisters, your brother's daughters, your sister's daughters." Therefore, the list of forbidden marriage partners, as read in the Qur'an, Surah 4:23, does not include first cousins. Muhammad himself married his first cousin Zaynab bint Jahsh.

Financial incentives to discourage consanguineous marriages exist in some countries: mandatory premarital screening for inherited blood disorders has existed in the UAE since 2004 and in Qatar since 2009, whereby couples with positive results will not receive their marriage grant.

Hinduism

In the Manusmriti, blood relation marriage (on the mother's side) is prohibited for 7 generations.

Ayurveda states that marriage within the Gotra (father's side) is a consanguineous marriage which can lead to many gestational and genetic problems in the fetus. Therefore, it has become a common practice in Hindu households during pre-marriage discussions to ask the couples' Gotra. Couples of the same Gotra are advised not to marry. The advisers of this system say that this practice helps to reduce gestational problems and ensures a healthy progeny.

Genetic definitions

Average DNA shared between relatives
Relationship Average DNA
shared %
identical twin 100%
fraternal twin 50%
parent / child 50%
sibling 50%
half-sibling 25%
grandparent / grandchild 25%
aunt / uncle / niece / nephew 25%
half-aunt / half-uncle / half-niece / half-nephew 12.5%
double-first-cousin 25%
first-cousin 12.5%
half-first-cousin 6.25%
great-grandparent / great-grandchild 12.5%
grandaunt / granduncle / grandniece / grandnephew 12.5%
first-cousin-once-removed 6.25%
second-cousin 3.125%
A simplistic depiction of genetic relatedness after n generations as a 2−n progression.
 
Diagram of common family relationships, where the area of each colored circle is scaled according to the coefficient of relatedness. All relatives of the same relatedness are included together in one of the gray ellipses. Legal degrees of relationship can be found by counting the number of solid-line connections between the self and a relative.

Genetically, consanguinity derives from the reduction in variation due to meiosis that occurs because of the smaller number of near ancestors. Since all humans share between 99.6% and 99.9% of their genome, consanguinity only affects a very small part of the sequence. If two siblings have a child, the child has only two rather than four grandparents. In these circumstances, the probability is increased that the child will inherit two copies of a harmful recessive gene (allele) (rather than only one, which is less likely to have harmful effects).

Genetic consanguinity is expressed as defined 1922 by Wright with the coefficient of relationship r, where r is defined as the fraction of homozygous due to the consanguinity under discussion. Thus, a parent and child pair has a value of r=0.5 (sharing 50% of genes), siblings have a value of r=0.5, a parent's sibling has r=0.25 (25% of genes), and first cousins have r=0.125 (12.5% of genes). These are often expressed in terms of a percentage of shared DNA.

As a working definition, unions contracted between persons biologically related as second cousins or closer (r ≥ 0.03125) are categorized as consanguineous. This arbitrary limit has been chosen because the genetic influence in marriages between couples related to a lesser degree would usually be expected to differ only slightly from that observed in the general population. Globally it is estimated that at least 8.5% of children have consanguineous parents.

In clinical genetics, consanguinity is defined as a union between two individuals who are related as second cousins or closer, with the inbreeding coefficient (F) equal or higher than 0.0156.where (F) represents the proportion of genetic loci at which the child of a consanguineous couple might inherit identical gene copies from both parents.

It is common to identify one's first- and second-degree cousins, and sometimes third-degree cousins. It is seldom possible to identify fourth-degree cousins, since few people can trace their full family tree back more than four generations. (Nor is it considered important, since fourth cousins tend to be genetically no more similar to each other than they are to any other individual from the same region.)

Epidemiology, rates of occurrence

Cultural factors in favor

Reasons favoring consanguinous marriage have been listed as higher compatibility between husband and wife sharing same social relationships, couples stability, enforcing family solidarity, easier financial negotiations and others. Consanguinity is a deeply rooted phenomenon in 20% of the world population, mostly in the Middle East, West Asia and North Africa. Globally, the most common form of consanguineous union is between first cousins, in which the spouses share 18 of their genes inherited from a common ancestor, and so their progeny are homozygous (or more correctly autozygous) at 116 of all loci (r = 0.0625). Due to variation in geographical and ethnic background and the loci chosen to genotype there is some 2.4% variation expected.

Europe

Historically, some European nobles cited a close degree of consanguinity when they required convenient grounds for divorce, especially in contexts where religious doctrine forbade the voluntary dissolution of an unhappy or childless marriage.

Muslim countries

In the Arab world, the practice of marrying relatives is common. According to the Centre for Arabic Genomic Research, between 40% and 54% of UAE nationals' marriages are between family members, up from 39% in the previous generation. Between 21% and 28% of marriages of UAE nationals were between first cousins. Consanguineous marriage is much less prevalent in Christian Arabs as they do not practice arranged marriages. Additionally, an indult dispensation is required to marriages contracted between first cousins or closer in Arab Christian denominations in communion with the Roman Catholic Church, and the Greek Orthodox Church; there are no similar regulations that apply to first-cousin marriages in the Coptic Orthodox Church.

In Egypt, around 40% of the population marry a cousin. A 1992 survey in Jordan found that 32% were married to a first cousin; a further 17.3% were married to more distant relatives. 67% of marriages in Saudi Arabia are between close relatives as are 54% of all marriages in Kuwait, whereas 18% of all Lebanese were between blood relatives. The incidence of consanguinity was 54.3% among Kuwaiti natives and higher among Bedouins.

It has been estimated that 55% of marriages between Pakistani Muslim immigrants in the United Kingdom are between first cousins, where preferential patrilateral parallel cousin marriage, i.e. a boy marrying the daughter of his father's brother is favored.

Double first cousins are descended from two pairs of siblings, and have the same genetic similarity as half-siblings. In unions between double first cousins the highest inbreeding coefficients are reached, with an (F) of 0.125, for example in among Arabs and uncle-niece marriages in South India.

Genetic disorders

The phenomenon of inbreeding increases the level of homozygotes for autosomal genetic disorders and generally leads to a decreased biological fitness of a population known as inbreeding depression, a major objective in clinical studies. While the risks of inbreeding are well-known, informing minority group families with a tradition of endogamy and changing their behavior is a challenging task for genetic counseling in the health care system. The offspring of consanguineous relationships are at greater risk of certain genetic disorders. Autosomal recessive disorders occur in individuals who are homozygous for a particular recessive gene mutation. This means that they carry two copies (alleles) of the same gene. Except in certain rare circumstances (new mutations or uniparental disomy) both parents of an individual with such a disorder will be carriers of the gene. Such carriers are not affected and will not display any signs that they are carriers, and so may be unaware that they carry the mutated gene. As relatives share a proportion of their genes, it is much more likely that related parents will be carriers of an autosomal recessive gene, and therefore their children are at a higher risk of an autosomal recessive disorder. The extent to which the risk increases depends on the degree of genetic relationship between the parents; so the risk is greater in mating relationships where the parents are close relatives, but for relationships between more distant relatives, such as second cousins, the risk is lower (although still greater than the general population).

Consanguinity in a population increases its susceptibility to infectious pathogens such as tuberculosis and hepatitis but may decrease its susceptibility to malaria and other pathogens.

Multiculturalism

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