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79-418: Most eukaryotes have two matching sets of chromosomes ; that is, they are diploid . Diploid organisms have the same loci on each of their two sets of homologous chromosomes except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes may be mismatched as part of a chromosomal sex-determination system . If both alleles of a diploid organism are

158-405: A microtubular spindle during nuclear division, in the distinctively eukaryotic process of mitosis . Eukaryotes differ from prokaryotes in multiple ways, with unique biochemical pathways such as sterane synthesis. The eukaryotic signature proteins have no homology to proteins in other domains of life, but appear to be universal among eukaryotes. They include the proteins of the cytoskeleton,

237-456: A skeletal muscle developmental deficit. In population genetics , the concept of heterozygosity is commonly extended to refer to the population as a whole, i.e., the fraction of individuals in a population that are heterozygous for a particular locus. It can also refer to the fraction of loci within an individual that are heterozygous. In an admixed population , whose members derive ancestry from two or more separate sources, its heterozygosity

316-513: A "symbiosis-based phylogeny", giving the description "Eukarya (symbiosis-derived nucleated organisms)". By 2014, a rough consensus started to emerge from the phylogenomic studies of the previous two decades. The majority of eukaryotes can be placed in one of two large clades dubbed Amorphea (similar in composition to the unikont hypothesis) and the Diphoda (formerly bikonts), which includes plants and most algal lineages. A third major grouping,

395-430: A body, with its cells dividing by mitosis , and at some stage produce haploid gametes through meiosis , a division that reduces the number of chromosomes and creates genetic variability . There is considerable variation in this pattern. Plants have both haploid and diploid multicellular phases . Eukaryotes have lower metabolic rates and longer generation times than prokaryotes, because they are larger and therefore have

474-479: A bundle of microtubules arising from a centriole , characteristically arranged as nine doublets surrounding two singlets. Flagella may have hairs ( mastigonemes ), as in many stramenopiles . Their interior is continuous with the cell's cytoplasm . Centrioles are often present, even in cells and groups that do not have flagella, but conifers and flowering plants have neither. They generally occur in groups that give rise to various microtubular roots. These form

553-526: A carrier. Were the presence of the SCA allele to confer only negative traits, its allele frequency would be expected to decrease generation after generation, until its presence were eliminated by selection and by chance. However, convincing evidence indicates, in areas with persistent malaria outbreaks, individuals with the heterozygous state have a distinct advantage (and this is why individuals with heterozygous alleles are far more common in these areas). Those with

632-510: A chance to pass on their genes. This resistance to infection is the main reason the SCA allele and SCA disease still exist. It is found in greatest frequency in populations where malaria was and often still is a serious problem. Approximately one in 10 African Americans is a carrier, as their recent ancestry is from malaria-stricken regions. Other populations in Africa, India, the Mediterranean and

711-736: A common origin. Hemizygous and nullizygous genotypes do not contain enough alleles to allow for comparison of sources, so this classification is irrelevant for them. As discussed above, "zygosity" can be used in the context of a specific genetic locus (example). The word zygosity may also be used to describe the genetic similarity or dissimilarity of twins. Identical twins are monozygotic , meaning that they develop from one zygote that splits and forms two embryos. Fraternal twins are dizygotic because they develop from two separate oocytes (egg cells) that are fertilized by two separate sperm . Sesquizygotic twins are halfway between monozygotic and dizygotic and are believed to arise after two sperm fertilize

790-425: A disadvantage. A well-established case of heterozygote advantage is that of the gene involved in sickle cell anaemia . Often, the advantages and disadvantages conveyed are rather complicated, because more than one gene may influence a given trait or morph . Major genes almost always have multiple effects ( pleiotropism ), which can simultaneously convey separate advantageous traits and disadvantageous traits upon

869-406: A given locus, heterozygous describes a genotype consisting of two different alleles at a locus, hemizygous describes a genotype consisting of only a single copy of a particular gene in an otherwise diploid organism, and nullizygous refers to an otherwise-diploid organism in which both copies of the gene are missing. A cell is said to be homozygous for a particular gene when identical alleles of

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948-509: A great resistance to infection and have a greater chance of surviving outbreaks. However, those with two alleles for SCA may survive malaria, but will typically die from their genetic disease unless they have access to advanced medical care. Those of the homozygous "normal" or wild-type case will have a greater chance of passing on their genes successfully, in that there is no chance of their offspring's suffering from SCA; yet, they are more susceptible to dying from malarial infection before they have

1027-455: A human study. Prior data were based solely on mouse experiments. These authors found the heterozygote state was indistinguishable from the noncarrier state. Another theory for the prevalence of the CF mutation is that it provides resistance to tuberculosis . Tuberculosis was responsible for 20% of all European deaths between 1600 and 1900, so even partial protection against the disease could account for

1106-491: A hybrid offspring. Previous research, comparing measures of dominance, overdominance and epistasis (mostly in plants), found that the majority of cases of heterozygote advantage were due to complementation (or dominance), the masking of deleterious recessive alleles by wild-type alleles, as discussed in the articles Heterosis and Complementation (genetics) , but there were also findings of overdominance, especially in rice. More recent research, however, has established that there

1185-415: A large-scale, long-term study population. Multiple studies have shown, in double-blind experiments, females prefer the scent of males who are heterozygous at all three MHC loci. The reasons proposed for these findings are speculative; however, it has been argued that heterozygosity at MHC loci results in more alleles to fight against a wider variety of diseases, possibly increasing survival rates against

1264-420: A long period of separation. Since loss-of-function mutations tend to be recessive (given that dominant mutations of this type generally prevent the organism from reproducing and thereby passing the gene on to the next generation), the result of any cross between the two populations will be fitter than the parent. This article deals with the specific case of fitness overdominance , where the fitness advantage of

1343-476: A lower overall fitness than either homozygote." Heterozygote disadvantage occurs in mammals, birds, and insects. Sickle-cell anemia (SCA) is a genetic disorder caused by the presence of two incompletely recessive alleles. When a sufferer's red blood cells are exposed to low- oxygen conditions, the cells lose their healthy round shape and become sickle-shaped. This deformation of the cells can cause them to become lodged in capillaries, depriving other parts of

1422-559: A membrane-bound nucleus . All animals , plants , fungi , and many unicellular organisms are eukaryotes. They constitute a major group of life forms alongside the two groups of prokaryotes : the Bacteria and the Archaea . Eukaryotes represent a small minority of the number of organisms, but given their generally much larger size, their collective global biomass is much larger than that of prokaryotes. The eukaryotes seemingly emerged within

1501-409: A phenotype. For organisms in which the male is heterogametic, such as humans, almost all X-linked genes are hemizygous in males with normal chromosomes, because they have only one X chromosome and few of the same genes are on the Y chromosome . Transgenic mice generated through exogenous DNA microinjection of an embryo's pronucleus are also considered to be hemizygous, because the introduced allele

1580-478: A population through heterozygote advantage. If weakness were the only effect of the mutant allele, so it conveyed only disadvantages, natural selection would weed out this version of the gene until it became extinct from the population. However, the same mutation also conveyed advantages, providing improved viability for heterozygous individuals. The heterozygote expressed none of the disadvantages of homozygotes, yet gained improved viability. The homozygote wild type

1659-402: A population: where n {\displaystyle n} is the number of individuals in the population, and a i 1 , a i 2 {\displaystyle a_{i1},a_{i2}} are the alleles of individual i {\displaystyle i} at the target locus. where m {\displaystyle m} is the number of alleles at

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1738-406: A primary component of the cytoskeleton, and are often assembled over the course of several cell divisions, with one flagellum retained from the parent and the other derived from it. Centrioles produce the spindle during nuclear division. The cells of plants, algae, fungi and most chromalveolates , but not animals, are surrounded by a cell wall. This is a layer outside the cell membrane , providing

1817-480: A rare disease, triosephosphate isomerase deficiency . Other mutations, which inactivate the enzyme (= null alleles ) are lethal when inherited homozygously (two defective copies of the TPI gene), but have no obvious effect in heterozygotes (one defective and one normal copy). However, the frequency of heterozygous null alleles is much higher than expected, indicating a heterozygous advantage for TPI null alleles. The reason

1896-429: A selective advantage. Approximately one in 25 persons of European descent is a carrier of the disease, and one in 2500 to 3000 children born is affected by Cystic fibrosis. Triosephosphate isomerase (TPI) is a central enzyme of glycolysis , the main pathway for cells to obtain energy by metabolizing sugars . In humans, certain mutations within this enzyme , which affect the dimerisation of this protein, are causal for

1975-465: A single CF mutation may influence survival of people affected by diseases involving loss of body fluid, typically due to diarrhea. The most common of these maladies is cholera , which only began killing Europeans millennia after the CF mutation frequency was already established in the population. Another such disease that CF may protect against is typhoid . Those with cholera would often die of dehydration due to intestinal water losses. A mouse model of CF

2054-499: A single oocyte which subsequently splits into two morula . Zygosity is an important factor in human medicine. If one copy of an essential gene is mutated, the (heterozygous) carrier is usually healthy. However, more than 1,000 human genes appear to require both copies, that is, a single copy is insufficient for health. This is called haploinsufficiency . For instance, a single copy of the Kmt5b gene leads to haploinsufficiency and results in

2133-510: A smaller surface area to volume ratio. The evolution of sexual reproduction may be a primordial characteristic of eukaryotes. Based on a phylogenetic analysis, Dacks and Roger have proposed that facultative sex was present in the group's common ancestor. A core set of genes that function in meiosis is present in both Trichomonas vaginalis and Giardia intestinalis , two organisms previously thought to be asexual. Since these two species are descendants of lineages that diverged early from

2212-417: A system of domains rather than kingdoms as top level rank being put forward by Carl Woese , Otto Kandler , and Mark Wheelis in 1990, uniting all the eukaryote kingdoms in the domain "Eucarya", stating, however, that " 'eukaryotes' will continue to be an acceptable common synonym". In 1996, the evolutionary biologist Lynn Margulis proposed to replace kingdoms and domains with "inclusive" names to create

2291-558: A wider range of infectious diseases. The latter claim has been tested in an experiment, which showed outbreeding mice to exhibit MHC heterozygosity enhanced their health and survival rates against multiple-strain infections. B-cell activating factor (BAFF) is a cytokine encoded by the TNFSF13B gene. A variant of the gene containing a deletion (GCTGT—>A) renders a shorter mRNA transcript that escapes degradation by microRNA , thus increasing expression of BAFF, which consequently up-regulates

2370-442: Is also an epigenetic contribution to heterozygote advantage, primarily as determined in plants, though also reported in mice. When two populations of any sexual organism are separated and kept isolated from each other, the frequencies of deleterious mutations in the two populations will differ over time, by genetic drift . It is highly unlikely, however, that the same deleterious mutations will be common in both populations after

2449-411: Is called a heterozygote specifically for the allele in question, and therefore, heterozygosity refers to a specific genotype. Heterozygous genotypes are represented by an uppercase letter (representing the dominant/wild-type allele) and a lowercase letter (representing the recessive/mutant allele), as in "Rr" or "Ss". Alternatively, a heterozygote for gene "R" is assumed to be "Rr". The uppercase letter

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2528-405: Is called a heterozygote advantage . A chromosome in a diploid organism is hemizygous when only one copy is present. The cell or organism is called a hemizygote . Hemizygosity is also observed when one copy of a gene is deleted, or, in the heterogametic sex , when a gene is located on a sex chromosome. Hemizygosity is not the same as haploinsufficiency , which describes a mechanism for producing

2607-610: Is closer in structure to bacterial RNA than to eukaryote RNA. Some eukaryotes, such as the metamonads Giardia and Trichomonas , and the amoebozoan Pelomyxa , appear to lack mitochondria, but all contain mitochondrion-derived organelles, like hydrogenosomes or mitosomes , having lost their mitochondria secondarily. They obtain energy by enzymatic action in the cytoplasm. Plants and various groups of algae have plastids as well as mitochondria. Plastids, like mitochondria, have their own DNA and are developed from endosymbionts , in this case cyanobacteria . They usually take

2686-448: Is expected to be incorporated into only one copy of any locus. A transgenic individual can later be bred to homozygosity and maintained as an inbred line to reduce the need to confirm the genotype of each individual. In cultured mammalian cells, such as the Chinese hamster ovary cell line, a number of genetic loci are present in a functional hemizygous state, due to mutations or deletions in

2765-452: Is homozygous-dominant for a particular trait, its genotype is represented by a doubling of the symbol for that trait, such as "PP". An individual that is homozygous-recessive for a particular trait carries two copies of the allele that codes for the recessive trait . This allele, often called the "recessive allele", is usually represented by the lowercase form of the letter used for the corresponding dominant trait (such as, with reference to

2844-596: Is proven to be at least as great as the least heterozygous source population and potentially more than the heterozygosity of all the source populations. It reflects the contributions of its multiple ancestral groups. Admixed populations show high levels of genetic variation due to the fusion of source populations with different genetic variants. Typically, the observed ( H o {\displaystyle H_{o}} ) and expected ( H e {\displaystyle H_{e}} ) heterozygosities are compared, defined as follows for diploid individuals in

2923-532: Is that their cells have nuclei . This gives them their name, from the Greek εὖ ( eu , "well" or "good") and κάρυον ( karyon , "nut" or "kernel", here meaning "nucleus"). Eukaryotic cells have a variety of internal membrane-bound structures, called organelles , and a cytoskeleton which defines the cell's organization and shape. The nucleus stores the cell's DNA , which is divided into linear bundles called chromosomes ; these are separated into two matching sets by

3002-766: Is unknown; however, new scientific results are suggesting cells having reduced TPI activity are more resistant against oxidative stress . PlosOne, December 2006 There is evidence that genetic heterozygosity in humans provides increased resistance to certain viral infections. A significantly lower proportion of HLA-DRB1 heterozygosity exists among HCV-infected cases than uninfected cases. The differences were more pronounced with alleles represented as functional supertypes (P = 1.05 × 10 ) than those represented as low-resolution genotypes (P = 1.99 × 10 ). These findings constitute evidence that heterozygosity provides an advantage among carriers of different supertype HLA-DRB1 alleles against HCV infection progression to end-stage liver disease in

3081-460: Is usually written first. If the trait in question is determined by simple (complete) dominance, a heterozygote will express only the trait coded by the dominant allele, and the trait coded by the recessive allele will not be present. In more complex dominance schemes the results of heterozygosity can be more complex. A heterozygous genotype can have a higher relative fitness than either the homozygous-dominant or homozygous-recessive genotype – this

3160-659: The Asgard archaea , and are closely related to the Heimdallarchaeia . This implies that there are only two domains of life , Bacteria and Archaea, with eukaryotes incorporated among the Archaea. Eukaryotes first emerged during the Paleoproterozoic , likely as flagellated cells. The leading evolutionary theory is they were created by symbiogenesis between an anaerobic Asgard archaean and an aerobic proteobacterium , which formed

3239-1211: The Excavata , has been abandoned as a formal group as it is paraphyletic . The proposed phylogeny below includes only one group of excavates ( Discoba ), and incorporates the 2021 proposal that picozoans are close relatives of rhodophytes. The Provora are a group of microbial predators discovered in 2022. Ancyromonadida [REDACTED] Malawimonada [REDACTED] CRuMs [REDACTED] Amoebozoa [REDACTED] Breviatea [REDACTED] Apusomonadida [REDACTED] Holomycota (inc. fungi) [REDACTED] Holozoa (inc. animals) [REDACTED] ? Metamonada [REDACTED] Discoba [REDACTED] Cryptista [REDACTED] Rhodophyta (red algae) [REDACTED] Picozoa [REDACTED] Glaucophyta [REDACTED] Viridiplantae (plants) [REDACTED] Hemimastigophora [REDACTED] Provora [REDACTED] Haptista [REDACTED] Telonemia [REDACTED] Rhizaria [REDACTED] Alveolata [REDACTED] Stramenopiles [REDACTED] [REDACTED] Heterozygote advantage A heterozygote advantage describes

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3318-518: The archaea —having a volume of around 10,000 times greater. Eukaryotes represent a small minority of the number of organisms , but, as many of them are much larger, their collective global biomass (468 gigatons) is far larger than that of prokaryotes (77 gigatons), with plants alone accounting for over 81% of the total biomass of Earth . The eukaryotes are a diverse lineage, consisting mainly of microscopic organisms . Multicellularity in some form has evolved independently at least 25 times within

3397-583: The blue whale , weighing up to 190 tonnes and measuring up to 33.6 metres (110 ft) long, or plants like the coast redwood , up to 120 metres (390 ft) tall. Many eukaryotes are unicellular; the informal grouping called protists includes many of these, with some multicellular forms like the giant kelp up to 200 feet (61 m) long. The multicellular eukaryotes include the animals, plants, and fungi , but again, these groups too contain many unicellular species . Eukaryotic cells are typically much larger than those of prokaryotes —the bacteria and

3476-740: The mitochondria . A second episode of symbiogenesis with a cyanobacterium created the plants, with chloroplasts . Eukaryotic cells contain membrane-bound organelles such as the nucleus , the endoplasmic reticulum , and the Golgi apparatus . Eukaryotes may be either unicellular or multicellular . In comparison, prokaryotes are typically unicellular. Unicellular eukaryotes are sometimes called protists . Eukaryotes can reproduce both asexually through mitosis and sexually through meiosis and gamete fusion ( fertilization ). Eukaryotes are organisms that range from microscopic single cells , such as picozoans under 3 micrometres across, to animals like

3555-510: The taxonomic rank of kingdom by Linnaeus in the 18th century. Though he included the fungi with plants with some reservations, it was later realized that they are quite distinct and warrant a separate kingdom. The various single-cell eukaryotes were originally placed with plants or animals when they became known. In 1818, the German biologist Georg A. Goldfuss coined the word Protozoa to refer to organisms such as ciliates , and this group

3634-547: The Middle East have higher allele frequencies, as well. As effective antimalarial treatment becomes increasingly available to malaria-stricken populations, the allele frequency for SCA is expected to decrease, so long as SCA treatments are unavailable or only partially effective. If effective sickle-cell anemia treatments become available to the same degree, allele frequencies should remain at their present levels in these populations. In this context, 'treatment effectiveness' refers to

3713-431: The benign sickle trait possess a resistance to malarial infection. The pathogen that causes the disease spends part of its cycle in the red blood cells and triggers an abnormal drop in oxygen levels in the cell. In carriers, this drop is sufficient to trigger the full sickle-cell reaction, which leads to infected cells being rapidly removed from circulation and strongly limiting the infection's progress. These individuals have

3792-407: The body of sufficient oxygen. When untreated, a person with SCA may suffer from painful periodic bouts, often causing damage to internal organs , strokes , or anemia . Typically, the disease results in premature death. Because the genetic disorder is incompletely recessive, a person with only one SCA allele and one unaffected allele will have a "mixed" phenotype : The sufferer will not experience

3871-443: The body. The malfunctioning protein causes viscous mucus to form in the lungs and intestinal tract. Before modern times, children born with CF would have a life expectancy of only a few years, but modern medicine has made it possible for these people to live into adulthood. However, even in these individuals, CF typically causes male infertility . It is the most common genetic disease among people of European descent. The presence of

3950-429: The case in which the heterozygous genotype has a higher relative fitness than either the homozygous dominant or homozygous recessive genotype. Loci exhibiting heterozygote advantage are a small minority of loci. The specific case of heterozygote advantage due to a single locus is known as overdominance . Overdominance is a rare condition in genetics where the phenotype of the heterozygote lies outside of

4029-709: The cell to move, change shape, or transport materials. The motor structures are microfilaments of actin and actin-binding proteins , including α- actinin , fimbrin , and filamin are present in submembranous cortical layers and bundles. Motor proteins of microtubules, dynein and kinesin , and myosin of actin filaments, provide dynamic character of the network. Many eukaryotes have long slender motile cytoplasmic projections, called flagella , or multiple shorter structures called cilia . These organelles are variously involved in movement, feeding, and sensation. They are composed mainly of tubulin , and are entirely distinct from prokaryotic flagella. They are supported by

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4108-404: The cell with structural support, protection, and a filtering mechanism. The cell wall also prevents over-expansion when water enters the cell. The major polysaccharides making up the primary cell wall of land plants are cellulose , hemicellulose , and pectin . The cellulose microfibrils are linked together with hemicellulose, embedded in a pectin matrix. The most common hemicellulose in

4187-427: The complex transcription machinery, the membrane-sorting systems, the nuclear pore , and some enzymes in the biochemical pathways. Eukaryote cells include a variety of membrane-bound structures, together forming the endomembrane system. Simple compartments, called vesicles and vacuoles , can form by budding off other membranes. Many cells ingest food and other materials through a process of endocytosis , where

4266-454: The cross is caused by being heterozygous at one specific locus alone. Cases of both homozygote and heterozygote advantage have been demonstrated in several organisms, including humans. The first experimental confirmation of heterozygote advantage was with Drosophila melanogaster , a fruit fly that has been a model organism for genetic research. In a classic study on the ebony mutation, Kalmus demonstrated how polymorphism can persist in

4345-542: The current gene frequency. The most recent hypothesis, published in the Journal of Theoretical Biology, proposed having a single CF mutation granted respiratory advantage for early Europeans migrating north into the dusty wasteland left by the Last Glacial Maximum . As of 2016, the selective pressure for the high gene prevalence of CF mutations is still uncertain, and may be due to an unbiased genetic drift rather than

4424-622: The cytoplasm. Mitochondria are organelles in eukaryotic cells. The mitochondrion is commonly called "the powerhouse of the cell", for its function providing energy by oxidising sugars or fats to produce the energy-storing molecule ATP . Mitochondria have two surrounding membranes , each a phospholipid bilayer , the inner of which is folded into invaginations called cristae where aerobic respiration takes place. Mitochondria contain their own DNA , which has close structural similarities to bacterial DNA , from which it originated, and which encodes rRNA and tRNA genes that produce RNA which

4503-416: The ebony mutation to a wild-type population. The ebony allele persisted through many generations of flies in the study, at genotype frequencies that varied from 8% to 30%. In experimental populations, the ebony allele was more prevalent and therefore advantageous when flies were raised at low, dry temperatures, but less so in warm, moist environments. Heterozygote disadvantage occurs when "a heterozygote has

4582-406: The eukaryotes. Complex multicellular organisms, not counting the aggregation of amoebae to form slime molds , have evolved within only six eukaryotic lineages: animals , symbiomycotan fungi , brown algae , red algae , green algae , and land plants . Eukaryotes are grouped by genomic similarities, so that groups often lack visible shared characteristics. The defining feature of eukaryotes

4661-484: The eukaryotic evolutionary tree, core meiotic genes, and hence sex, were likely present in the common ancestor of eukaryotes. Species once thought to be asexual, such as Leishmania parasites, have a sexual cycle. Amoebae, previously regarded as asexual, may be anciently sexual; while present-day asexual groups could have arisen recently. In antiquity , the two lineages of animals and plants were recognized by Aristotle and Theophrastus . The lineages were given

4740-416: The example above, "p" for the recessive allele producing white flowers in pea plants). The genotype of an organism that is homozygous-recessive for a particular trait is represented by a doubling of the appropriate letter, such as "pp". A diploid organism is heterozygous at a gene locus when its cells contain two different alleles (one wild-type allele and one mutant allele) of a gene. The cell or organism

4819-465: The female parent. Zygosity is a description of whether those two alleles have identical or different DNA sequences. In some cases the term "zygosity" is used in the context of a single chromosome. The words homozygous , heterozygous , and hemizygous are used to describe the genotype of a diploid organism at a single locus on the DNA. Homozygous describes a genotype consisting of two identical alleles at

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4898-646: The form of chloroplasts which, like cyanobacteria, contain chlorophyll and produce organic compounds (such as glucose ) through photosynthesis . Others are involved in storing food. Although plastids probably had a single origin, not all plastid-containing groups are closely related. Instead, some eukaryotes have obtained them from others through secondary endosymbiosis or ingestion. The capture and sequestering of photosynthetic cells and chloroplasts, kleptoplasty , occurs in many types of modern eukaryotic organisms. The cytoskeleton provides stiffening structure and points of attachment for motor structures that enable

4977-440: The gene are present on both homologous chromosomes . An individual that is homozygous-dominant for a particular trait carries two copies of the allele that codes for the dominant trait . This allele, often called the "dominant allele", is normally represented by the uppercase form of the letter used for the corresponding recessive trait (such as "P" for the dominant allele producing purple flowers in pea plants). When an organism

5056-581: The genotype is said to be autozygous . This is also known as being "identical by descent", or IBD. When the two alleles come from different sources (at least to the extent that the descent can be traced), the genotype is called allozygous . This is known as being "identical by state", or IBS. Because the alleles of autozygous genotypes come from the same source, they are always homozygous, but allozygous genotypes may be homozygous too. Heterozygous genotypes are often, but not necessarily, allozygous because different alleles may have arisen by mutation some time after

5135-408: The humoral immune response. This variant is associated with systemic lupus erythematosus and multiple sclerosis , but heterozygote carriers of the variant have decreased susceptibility to malaria infection. Variants of the kinase-related MAP3K5 are associated with lifespan. In a study among Japanese-Americans, homozygous individuals have a longer lifespan than heterozygous individuals, indicating

5214-437: The ill effects of the disease, yet will still possess a sickle cell trait , whereby some of the red blood cells undergo benign effects of SCA, but nothing severe enough to be harmful. Those afflicted with sickle-cell trait are also known as carriers: If two carriers have a child, there is a 25% chance their child will have SCA, a 50% chance their child will be a carrier, and a 25% chance that the child will neither have SCA nor be

5293-451: The other alleles. A nullizygous organism carries two mutant alleles for the same gene. The mutant alleles are both complete loss-of-function or 'null' alleles, so homozygous null and nullizygous are synonymous. The mutant cell or organism is called a nullizygote . Zygosity may also refer to the origin(s) of the alleles in a genotype. When the two alleles at a locus originate from a common ancestor by way of nonrandom mating ( inbreeding ),

5372-449: The outer membrane invaginates and then pinches off to form a vesicle. Some cell products can leave in a vesicle through exocytosis . The nucleus is surrounded by a double membrane known as the nuclear envelope , with nuclear pores that allow material to move in and out. Various tube- and sheet-like extensions of the nuclear membrane form the endoplasmic reticulum , which is involved in protein transport and maturation. It includes

5451-427: The phenotypical range of both homozygote parents, and heterozygous individuals have a higher fitness than homozygous individuals. Polymorphism can be maintained by selection favoring the heterozygote, and this mechanism is used to explain the occurrence of some kinds of genetic variability . A common example is the case where the heterozygote conveys both advantages and disadvantages, while both homozygotes convey

5530-419: The population. Some genes may have alleles with equal distributions. Often, the different variations in the genes do not affect the normal functioning of the organism at all. For some genes, one allele may be common, and another allele may be rare. Sometimes, one allele is a disease -causing variation while another allele is healthy. In diploid organisms, one allele is inherited from the male parent and one from

5609-417: The primary cell wall is xyloglucan . Eukaryotes have a life cycle that involves sexual reproduction , alternating between a haploid phase, where only one copy of each chromosome is present in each cell, and a diploid phase, with two copies of each chromosome in each cell. The diploid phase is formed by fusion of two haploid gametes, such as eggs and spermatozoa , to form a zygote ; this may grow into

5688-445: The reproductive fitness it grants, rather than the degree of suffering alleviation. Cystic fibrosis (CF) is an autosomal recessive hereditary monogenic disease of the lungs , sweat glands and digestive system . The disorder is caused by the malfunction of the CFTR protein, which controls inter membrane transport of chloride ions, which is vital to maintaining equilibrium of water in

5767-498: The rough endoplasmic reticulum, covered in ribosomes which synthesize proteins; these enter the interior space or lumen. Subsequently, they generally enter vesicles, which bud off from the smooth endoplasmic reticulum. In most eukaryotes, these protein-carrying vesicles are released and further modified in stacks of flattened vesicles ( cisternae ), the Golgi apparatus . Vesicles may be specialized; for instance, lysosomes contain digestive enzymes that break down biomolecules in

5846-400: The same organism. In this instance, the state of the organism's environment will provide selection , with a net effect either favoring or working in opposition to the gene, until an environmentally determined equilibrium is reached. Heterozygote advantage is a major underlying mechanism for heterosis , or "hybrid vigor", which is the improved or increased function of any biological quality in

5925-591: The same, the organism is homozygous at that locus. If they are different, the organism is heterozygous at that locus. If one allele is missing, it is hemizygous , and, if both alleles are missing, it is nullizygous . The DNA sequence of a gene often varies from one individual to another. These gene variants are called alleles . While some genes have only one allele because there is low variation, others have only one allele because deviation from that allele can be harmful or fatal. But most genes have two or more alleles. The frequency of different alleles varies throughout

6004-437: The target locus, and f i {\displaystyle f_{i}} is the allele frequency of the i t h {\displaystyle i^{th}} allele at the target locus. Eukaryote The eukaryotes ( / j uː ˈ k ær i oʊ t s , - ə t s / yoo- KARR -ee-ohts, -⁠əts ) constitute the domain of Eukaryota or Eukarya , organisms whose cells have

6083-498: Was expanded until Ernst Haeckel made it a kingdom encompassing all single-celled eukaryotes, the Protista , in 1866. The eukaryotes thus came to be seen as four kingdoms: The protists were at that time thought to be "primitive forms", and thus an evolutionary grade , united by their primitive unicellular nature. Understanding of the oldest branchings in the tree of life only developed substantially with DNA sequencing , leading to

6162-402: Was perfectly healthy, but did not possess the improved viability of the heterozygote, and was thus at a disadvantage compared to the heterozygote in survival and reproduction. This mutation, which at first glance appeared to be harmful, conferred enough of an advantage to heterozygotes to make it beneficial, so that it remained at dynamic equilibrium in the gene pool. Kalmus introduced flies with

6241-515: Was used to study resistance to cholera, and the results were published in Science in 1994 (Gabriel, et al.). The heterozygote (carrier) mouse had less secretory diarrhea than normal, noncarrier mice. Thus, it appeared for a time that resistance to cholera explained the selective advantage to being a carrier for CF and why the carrier state was so frequent. This theory has been called into question. Hogenauer, et al. have challenged this popular theory with

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