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118-529: During the congressional debates about the Plant Patent Act, some of the key issues were: what kinds of plant qualified as patentable subject matter; what exactly did a breeder have to do in order to qualify as an inventor; and what was the relationship between the act of invention and the act of reproducing the invention. These issues were overcome by adopting a new concept of invention that has been characterized as 'inductive' invention, by arguing that "although

236-433: A DNA repair process, and that when it occurs during meiosis it is an adaptation for repairing the genomic DNA that is passed on to progeny. Experimental findings indicate that a substantial benefit of meiosis is recombinational repair of DNA damage in the germline , as indicated by the following examples. Hydrogen peroxide is an agent that causes oxidative stress leading to oxidative DNA damage. Treatment of

354-433: A butterfly may produce offspring with new mutations. The majority of these mutations will have no effect; but one might change the colour of one of the butterfly's offspring, making it harder (or easier) for predators to see. If this color change is advantageous, the chances of this butterfly's surviving and producing its own offspring are a little better, and over time the number of butterflies with this mutation may form

472-768: A mutation is an alteration in the nucleic acid sequence of the genome of an organism , virus , or extrachromosomal DNA . Viral genomes contain either DNA or RNA . Mutations result from errors during DNA or viral replication , mitosis , or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining ), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis ). Mutations may also result from substitution , insertion or deletion of segments of DNA due to mobile genetic elements . Mutations may or may not produce detectable changes in

590-493: A barrel shaped spindle. In human oocytes spindle microtubule nucleation begins on the chromosomes, forming an aster that eventually expands to surround the chromosomes. Chromosomes then slide along the microtubules towards the equator of the spindle, at which point the chromosome kinetochores form end-on attachments to microtubules. Homologous pairs move together along the metaphase plate: As kinetochore microtubules from both spindle poles attach to their respective kinetochores,

708-465: A common intestinal parasite, was previously considered to have descended from a lineage that predated the emergence of meiosis and sex. However, G. intestinalis has now been found to possess a core set of meiotic genes, including five meiosis specific genes. Also evidence for meiotic recombination , indicative of sexual reproduction , was found in G. intestinalis . Another example of organisms previously thought to be asexual are parasitic protozoa of

826-433: A diploid cell called the zygote . The organism's diploid germ-line stem cells undergo meiosis to make haploid gametes (the spermatozoa in males and ova in females), which fertilize to form the zygote. The diploid zygote undergoes repeated cellular division by mitosis to grow into the organism. In the haplontic life cycle (with post-zygotic meiosis), the organism is haploid, by the proliferation and differentiation of

944-406: A diploid cell, which contains two copies of each chromosome, termed homologs . First, the cell undergoes DNA replication , so each homolog now consists of two identical sister chromatids. Then each set of homologs pair with each other and exchange genetic information by homologous recombination often leading to physical connections ( crossovers ) between the homologs. In the first meiotic division,

1062-729: A group of expert geneticists and biologists , who have the responsibility of establishing the standard or so-called "consensus" sequence. This step requires a tremendous scientific effort. Once the consensus sequence is known, the mutations in a genome can be pinpointed, described, and classified. The committee of the Human Genome Variation Society (HGVS) has developed the standard human sequence variant nomenclature, which should be used by researchers and DNA diagnostic centers to generate unambiguous mutation descriptions. In principle, this nomenclature can also be used to describe mutations in other organisms. The nomenclature specifies

1180-413: A healthy, uncontaminated cell. Naturally occurring oxidative DNA damage is estimated to occur 10,000 times per cell per day in humans and 100,000 times per cell per day in rats . Spontaneous mutations can be characterized by the specific change: There is increasing evidence that the majority of spontaneously arising mutations are due to error-prone replication ( translesion synthesis ) past DNA damage in

1298-1018: A larger percentage of the population. Neutral mutations are defined as mutations whose effects do not influence the fitness of an individual. These can increase in frequency over time due to genetic drift . It is believed that the overwhelming majority of mutations have no significant effect on an organism's fitness. Also, DNA repair mechanisms are able to mend most changes before they become permanent mutations, and many organisms have mechanisms, such as apoptotic pathways , for eliminating otherwise-permanently mutated somatic cells . Beneficial mutations can improve reproductive success. Four classes of mutations are (1) spontaneous mutations (molecular decay), (2) mutations due to error-prone replication bypass of naturally occurring DNA damage (also called error-prone translesion synthesis), (3) errors introduced during DNA repair, and (4) induced mutations caused by mutagens . Scientists may sometimes deliberately introduce mutations into cells or research organisms for

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1416-497: A major source of raw material for evolving new genes, with tens to hundreds of genes duplicated in animal genomes every million years. Most genes belong to larger gene families of shared ancestry, detectable by their sequence homology . Novel genes are produced by several methods, commonly through the duplication and mutation of an ancestral gene, or by recombining parts of different genes to form new combinations with new functions. Here, protein domains act as modules, each with

1534-419: A male and a female will fuse to create a zygote , a cell with two copies of each chromosome again. Errors in meiosis resulting in aneuploidy (an abnormal number of chromosomes) are the leading known cause of miscarriage and the most frequent genetic cause of developmental disabilities . In meiosis, DNA replication is followed by two rounds of cell division to produce four daughter cells, each with half

1652-502: A minor effect. For instance, human height is determined by hundreds of genetic variants ("mutations") but each of them has a very minor effect on height, apart from the impact of nutrition . Height (or size) itself may be more or less beneficial as the huge range of sizes in animal or plant groups shows. Attempts have been made to infer the distribution of fitness effects (DFE) using mutagenesis experiments and theoretical models applied to molecular sequence data. DFE, as used to determine

1770-407: A new combination of maternal and paternal genetic information, resulting in offspring that are genetically distinct from either parent. Furthermore, an individual gamete can include an assortment of maternal, paternal, and recombinant chromatids. This genetic diversity resulting from sexual reproduction contributes to the variation in traits upon which natural selection can act. Meiosis uses many of

1888-400: A new diploid organism. The haplodiplontic life cycle can be considered a fusion of the diplontic and haplontic life cycles. Meiosis occurs in all animals and plants. The result, the production of gametes with half the number of chromosomes as the parent cell, is the same, but the detailed process is different. In animals, meiosis produces gametes directly. In land plants and some algae, there

2006-565: A number of beneficial mutations as well. For instance, in a screen of all gene deletions in E. coli , 80% of mutations were negative, but 20% were positive, even though many had a very small effect on growth (depending on condition). Gene deletions involve removal of whole genes, so that point mutations almost always have a much smaller effect. In a similar screen in Streptococcus pneumoniae , but this time with transposon insertions, 76% of insertion mutants were classified as neutral, 16% had

2124-402: A pair of sister chromatids) to opposite poles. Nonkinetochore microtubules lengthen, pushing the centrosomes farther apart. The cell elongates in preparation for division down the center. Unlike in mitosis, only the cohesin from the chromosome arms is degraded while the cohesin surrounding the centromere remains protected by a protein named Shugoshin (Japanese for "guardian spirit"), what prevents

2242-404: A particular and independent function, that can be mixed together to produce genes encoding new proteins with novel properties. For example, the human eye uses four genes to make structures that sense light: three for cone cell or colour vision and one for rod cell or night vision; all four arose from a single ancestral gene. Another advantage of duplicating a gene (or even an entire genome)

2360-420: A period of rest known as interkinesis or interphase II. No DNA replication occurs during this stage. Meiosis II is the second meiotic division, and usually involves equational segregation, or separation of sister chromatids. Mechanically, the process is similar to mitosis, though its genetic results are fundamentally different. The result is the production of four haploid cells (n chromosomes; 23 in humans) from

2478-423: A prolonged G 2 -like stage known as meiotic prophase . During this time, homologous chromosomes pair with each other and undergo genetic recombination , a programmed process in which DNA may be cut and then repaired, which allows them to exchange some of their genetic information . A subset of recombination events results in crossovers , which create physical links known as chiasmata (singular: chiasma, for

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2596-486: A significantly reduced fitness, but 6% were advantageous. This classification is obviously relative and somewhat artificial: a harmful mutation can quickly turn into a beneficial mutations when conditions change. Also, there is a gradient from harmful/beneficial to neutral, as many mutations may have small and mostly neglectable effects but under certain conditions will become relevant. Also, many traits are determined by hundreds of genes (or loci), so that each locus has only

2714-399: A single haploid cell called the gamete . Two organisms of opposing sex contribute their haploid gametes to form a diploid zygote. The zygote undergoes meiosis immediately, creating four haploid cells. These cells undergo mitosis to create the organism. Many fungi and many protozoa utilize the haplontic life cycle. In the haplodiplontic life cycle (with sporic or intermediate meiosis),

2832-448: A total of four daughter cells, each with a haploid set of chromosomes. Meiosis is now complete and ends up with four new daughter cells. Meiosis appears to be a fundamental characteristic of eukaryotic organisms and to have been present early in eukaryotic evolution. Eukaryotes that were once thought to lack meiotic sex have recently been shown to likely have, or once have had, this capability. As one example, Giardia intestinalis ,

2950-468: A whole. Changes in DNA caused by mutation in a coding region of DNA can cause errors in protein sequence that may result in partially or completely non-functional proteins. Each cell, in order to function correctly, depends on thousands of proteins to function in the right places at the right times. When a mutation alters a protein that plays a critical role in the body, a medical condition can result. One study on

3068-415: Is a major pathway for repairing double-strand breaks. NHEJ involves removal of a few nucleotides to allow somewhat inaccurate alignment of the two ends for rejoining followed by addition of nucleotides to fill in gaps. As a consequence, NHEJ often introduces mutations. Induced mutations are alterations in the gene after it has come in contact with mutagens and environmental causes. Induced mutations on

3186-468: Is accepted that the majority of mutations are neutral or deleterious, with advantageous mutations being rare; however, the proportion of types of mutations varies between species. This indicates two important points: first, the proportion of effectively neutral mutations is likely to vary between species, resulting from dependence on effective population size ; second, the average effect of deleterious mutations varies dramatically between species. In addition,

3304-400: Is an alternation of generations such that meiosis in the diploid sporophyte generation produces haploid spores instead of gametes. When they germinate, these spores undergo repeated cell division by mitosis, developing into a multicellular haploid gametophyte generation, which then produces gametes directly (i.e. without further meiosis). In both animals and plants, the final stage is for

3422-444: Is called a de novo mutation . A change in the genetic structure that is not inherited from a parent, and also not passed to offspring, is called a somatic mutation . Somatic mutations are not inherited by an organism's offspring because they do not affect the germline . However, they are passed down to all the progeny of a mutated cell within the same organism during mitosis. A major section of an organism therefore might carry

3540-423: Is cleaved, allowing the sister chromatids to segregate. The sister chromatids by convention are now called sister chromosomes as they move toward opposing poles. The process ends with telophase II , which is similar to telophase I, and is marked by decondensation and lengthening of the chromosomes and the disassembly of the spindle. Nuclear envelopes re-form and cleavage or cell plate formation eventually produces

3658-520: Is divided into meiosis I and meiosis II which are further divided into Karyokinesis I, Cytokinesis I, Karyokinesis II, and Cytokinesis II, respectively. The preparatory steps that lead up to meiosis are identical in pattern and name to interphase of the mitotic cell cycle. Interphase is divided into three phases: Interphase is followed by meiosis I and then meiosis II. Meiosis I separates replicated homologous chromosomes, each still made up of two sister chromatids, into two daughter cells, thus reducing

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3776-478: Is important in animals that have a dedicated germline to produce reproductive cells. However, it is of little value in understanding the effects of mutations in plants, which lack a dedicated germline. The distinction is also blurred in those animals that reproduce asexually through mechanisms such as budding , because the cells that give rise to the daughter organisms also give rise to that organism's germline. A new germline mutation not inherited from either parent

3894-445: Is in a coding or non-coding region . Mutations in the non-coding regulatory sequences of a gene, such as promoters, enhancers, and silencers, can alter levels of gene expression, but are less likely to alter the protein sequence. Mutations within introns and in regions with no known biological function (e.g. pseudogenes , retrotransposons ) are generally neutral , having no effect on phenotype – though intron mutations could alter

4012-578: Is likely mediated by oxidative stress leading to increased DNA damage. Meiosis occurs in eukaryotic life cycles involving sexual reproduction , consisting of the cyclical process of growth and development by mitotic cell division, production of gametes by meiosis and fertilization. At certain stages of the life cycle, germ cells produce gametes. Somatic cells make up the body of the organism and are not involved in gamete production. Cycling meiosis and fertilization events results in alternation between haploid and diploid states. The organism phase of

4130-406: Is that this increases engineering redundancy ; this allows one gene in the pair to acquire a new function while the other copy performs the original function. Other types of mutation occasionally create new genes from previously noncoding DNA . Changes in chromosome number may involve even larger mutations, where segments of the DNA within chromosomes break and then rearrange. For example, in

4248-422: Is that when they move within a genome, they can mutate or delete existing genes and thereby produce genetic diversity. Nonlethal mutations accumulate within the gene pool and increase the amount of genetic variation. The abundance of some genetic changes within the gene pool can be reduced by natural selection , while other "more favorable" mutations may accumulate and result in adaptive changes. For example,

4366-449: Is the stage at which all autosomal chromosomes have synapsed. In this stage homologous recombination, including chromosomal crossover (crossing over), is completed through the repair of the double strand breaks formed in leptotene. Most breaks are repaired without forming crossovers resulting in gene conversion . However, a subset of breaks (at least one per chromosome) form crossovers between non-sister (homologous) chromosomes resulting in

4484-530: The Homininae , two chromosomes fused to produce human chromosome 2 ; this fusion did not occur in the lineage of the other apes , and they retain these separate chromosomes. In evolution, the most important role of such chromosomal rearrangements may be to accelerate the divergence of a population into new species by making populations less likely to interbreed, thereby preserving genetic differences between these populations. Sequences of DNA that can move about

4602-440: The diakinesis stage, from Greek words meaning "moving through". This is the first point in meiosis where the four parts of the tetrads are actually visible. Sites of crossing over entangle together, effectively overlapping, making chiasmata clearly visible. Other than this observation, the rest of the stage closely resembles prometaphase of mitosis; the nucleoli disappear, the nuclear membrane disintegrates into vesicles, and

4720-435: The gametes , the sperm or egg cells . It involves two rounds of division that ultimately result in four cells, each with only one copy of each chromosome ( haploid ). Additionally, prior to the division, genetic material from the paternal and maternal copies of each chromosome is crossed over , creating new combinations of code on each chromosome. Later on, during fertilisation , the haploid cells produced by meiosis from

4838-474: The meiotic spindle begins to form. Unlike mitotic cells, human and mouse oocytes do not have centrosomes to produce the meiotic spindle. In mice, approximately 80 MicroTubule Organizing Centers (MTOCs) form a sphere in the ooplasm and begin to nucleate microtubules that reach out towards chromosomes, attaching to the chromosomes at the kinetochore . Over time, the MTOCs merge until two poles have formed, generating

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4956-409: The product of a gene , or prevent the gene from functioning properly or completely. Mutations can also occur in non-genic regions . A 2007 study on genetic variations between different species of Drosophila suggested that, if a mutation changes a protein produced by a gene, the result is likely to be harmful, with an estimated 70% of amino acid polymorphisms that have damaging effects, and

5074-438: The written description requirement of utility patents . Whereas human-made machines (and their inventive parts) can be described precisely, similarly accurate description is not possible for living things: even if a complete DNA sequence in every chromosome is known, it is not possible with modern technology to establish the limits of the DNA variation with the accuracy required for composition-of-matter claims . The scope of

5192-429: The "Delicious" apple and the "Washington" navel orange . Human and mouse somatic cells have a mutation rate more than ten times higher than the germline mutation rate for both species; mice have a higher rate of both somatic and germline mutations per cell division than humans. The disparity in mutation rate between the germline and somatic tissues likely reflects the greater importance of genome maintenance in

5310-470: The DFE also differs between coding regions and noncoding regions , with the DFE of noncoding DNA containing more weakly selected mutations. In multicellular organisms with dedicated reproductive cells , mutations can be subdivided into germline mutations , which can be passed on to descendants through their reproductive cells, and somatic mutations (also called acquired mutations), which involve cells outside

5428-474: The DFE of advantageous mutations may lead to increased ability to predict the evolutionary dynamics. Theoretical work on the DFE for advantageous mutations has been done by John H. Gillespie and H. Allen Orr . They proposed that the distribution for advantageous mutations should be exponential under a wide range of conditions, which, in general, has been supported by experimental studies, at least for strongly selected advantageous mutations. In general, it

5546-449: The DNA of the germline . The repair process used appears to involve homologous recombinational repair Prophase I arrested oocytes have a high capability for efficient repair of DNA damage , particularly exogenously induced double-strand breaks. DNA repair capability appears to be a key quality control mechanism in the female germ line and a critical determinant of fertility . Genetic recombination can be viewed as fundamentally

5664-422: The DNA. Ordinarily, a mutation cannot be recognized by enzymes once the base change is present in both DNA strands, and thus a mutation is not ordinarily repaired. At the cellular level, mutations can alter protein function and regulation. Unlike DNA damages, mutations are replicated when the cell replicates. At the level of cell populations, cells with mutations will increase or decrease in frequency according to

5782-498: The Greek letter Chi , Χ) between the homologous chromosomes. In most organisms, these links can help direct each pair of homologous chromosomes to segregate away from each other during meiosis I, resulting in two haploid cells that have half the number of chromosomes as the parent cell. During meiosis II, the cohesion between sister chromatids is released and they segregate from one another, as during mitosis . In some cases, all four of

5900-476: The US Department of Agriculture announced that it would accept applications for plant variety protection for industrial hemp ( Cannabis sativa ) after 24 April 2019, none have been granted to date, and breeders have instead sought intellectual property protection through the Plant Patent Act of 1930, such as PP31918 Cannabis plant named ‘RAINBOW GUMMEEZ’ (June 30, 2020). Mutation In biology ,

6018-409: The ability to reproduce by parthenogenesis . Meiosis does not occur in archaea or bacteria , which generally reproduce asexually via binary fission . However, a "sexual" process known as horizontal gene transfer involves the transfer of DNA from one bacterium or archaeon to another and recombination of these DNA molecules of different parental origin. Meiosis was discovered and described for

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6136-492: The adaptation rate of organisms, they have some times been named as adaptive mutagenesis mechanisms, and include the SOS response in bacteria, ectopic intrachromosomal recombination and other chromosomal events such as duplications. The sequence of a gene can be altered in a number of ways. Gene mutations have varying effects on health depending on where they occur and whether they alter the function of essential proteins. Mutations in

6254-518: The appearance of skin cancer during one's lifetime is induced by overexposure to UV radiation that causes mutations in the cellular and skin genome. There is a widespread assumption that mutations are (entirely) "random" with respect to their consequences (in terms of probability). This was shown to be wrong as mutation frequency can vary across regions of the genome, with such DNA repair - and mutation-biases being associated with various factors. For instance, Monroe and colleagues demonstrated that—in

6372-439: The category of by effect on function, but depending on the specificity of the change the mutations listed below will occur. In genetics , it is sometimes useful to classify mutations as either harmful or beneficial (or neutral ): Large-scale quantitative mutagenesis screens , in which thousands of millions of mutations are tested, invariably find that a larger fraction of mutations has harmful effects but always returns

6490-535: The chromosome number by half. During meiosis II, sister chromatids decouple and the resultant daughter chromosomes are segregated into four daughter cells. For diploid organisms, the daughter cells resulting from meiosis are haploid and contain only one copy of each chromosome. In some species, cells enter a resting phase known as interkinesis between meiosis I and meiosis II. Meiosis I and II are each divided into prophase , metaphase , anaphase , and telophase stages, similar in purpose to their analogous subphases in

6608-596: The chromosomes at the first meiotic division. The paired and replicated chromosomes are called bivalents (two chromosomes) or tetrads (four chromatids ), with one chromosome coming from each parent. Prophase I is divided into a series of substages which are named according to the appearance of chromosomes. The first stage of prophase I is the leptotene stage, also known as leptonema , from Greek words meaning "thin threads". In this stage of prophase I, individual chromosomes—each consisting of two replicated sister chromatids—become "individualized" to form visible strands within

6726-438: The comparatively higher frequency of cell divisions in the parental sperm donor germline drive conclusions that rates of de novo mutation can be tracked along a common basis. The frequency of error during the DNA replication process of gametogenesis , especially amplified in the rapid production of sperm cells, can promote more opportunities for de novo mutations to replicate unregulated by DNA repair machinery. This claim combines

6844-544: The comparison of genes between different species of Drosophila suggests that if a mutation does change a protein, the mutation will most likely be harmful, with an estimated 70 per cent of amino acid polymorphisms having damaging effects, and the remainder being either neutral or weakly beneficial. Some mutations alter a gene's DNA base sequence but do not change the protein made by the gene. Studies have shown that only 7% of point mutations in noncoding DNA of yeast are deleterious and 12% in coding DNA are deleterious. The rest of

6962-407: The complementary undamaged strand in DNA as a template or an undamaged sequence in a homologous chromosome if it is available. If DNA damage remains in a cell, transcription of a gene may be prevented and thus translation into a protein may also be blocked. DNA replication may also be blocked and/or the cell may die. In contrast to a DNA damage, a mutation is an alteration of the base sequence of

7080-404: The dedicated reproductive group and which are not usually transmitted to descendants. Diploid organisms (e.g., humans) contain two copies of each gene—a paternal and a maternal allele. Based on the occurrence of mutation on each chromosome, we may classify mutations into three types. A wild type or homozygous non-mutated organism is one in which neither allele is mutated. A germline mutation in

7198-431: The distribution of fitness effects was done by Motoo Kimura , an influential theoretical population geneticist . His neutral theory of molecular evolution proposes that most novel mutations will be highly deleterious, with a small fraction being neutral. A later proposal by Hiroshi Akashi proposed a bimodal model for the DFE, with modes centered around highly deleterious and neutral mutations. Both theories agree that

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7316-435: The effects of the mutations on the ability of the cell to survive and reproduce. Although distinctly different from each other, DNA damages and mutations are related because DNA damages often cause errors of DNA synthesis during replication or repair and these errors are a major source of mutation. Mutations can involve the duplication of large sections of DNA, usually through genetic recombination . These duplications are

7434-497: The environment. The criticism became more intense when the Plant Patent Act was cited to support patent protection for genetically modified organisms in US Supreme Court cases like Diamond v. Chakrabarty and J.E.M. Ag Supply v. Pioneer Hi-Bred . Many activists and scholars have suggested that there is a connection between plant patent protection and the loss of biodiversity , although such claims are contested. Although

7552-469: The exchange of genetic information. The exchange of information between the homologous chromatids results in a recombination of information; each chromosome has the complete set of information it had before, and there are no gaps formed as a result of the process. Because the chromosomes cannot be distinguished in the synaptonemal complex, the actual act of crossing over is not perceivable through an ordinary light microscope, and chiasmata are not visible until

7670-618: The first time in sea urchin eggs in 1876 by the German biologist Oscar Hertwig . It was described again in 1883, at the level of chromosomes , by the Belgian zoologist Edouard Van Beneden , in Ascaris roundworm eggs. The significance of meiosis for reproduction and inheritance, however, was described only in 1890 by German biologist August Weismann , who noted that two cell divisions were necessary to transform one diploid cell into four haploid cells if

7788-455: The genome, such as transposons , make up a major fraction of the genetic material of plants and animals, and may have been important in the evolution of genomes. For example, more than a million copies of the Alu sequence are present in the human genome , and these sequences have now been recruited to perform functions such as regulating gene expression . Another effect of these mobile DNA sequences

7906-443: The genus Leishmania , which cause human disease. However, these organisms were shown to have a sexual cycle consistent with a meiotic process. Although amoeba were once generally regarded as asexual, evidence has been presented that most lineages are anciently sexual and that the majority of asexual groups probably arose recently and independently. Dacks and Rogers proposed, based on a phylogenetic analysis, that facultative sex

8024-399: The germline than in the soma. In order to categorize a mutation as such, the "normal" sequence must be obtained from the DNA of a "normal" or "healthy" organism (as opposed to a "mutant" or "sick" one), it should be identified and reported; ideally, it should be made publicly available for a straightforward nucleotide-by-nucleotide comparison, and agreed upon by the scientific community or by

8142-518: The homologous chromosomes become much more closely (~100 nm) and stably paired (a process called synapsis) mediated by the installation of the transverse and central elements of the synaptonemal complex . Synapsis is thought to occur in a zipper-like fashion starting from a recombination nodule. The paired chromosomes are called bivalent or tetrad chromosomes. The pachytene stage ( / ˈ p æ k ɪ t iː n / PAK -i-teen ), also known as pachynema , from Greek words meaning "thick threads".

8260-414: The homologous chromosomes, forming inter-axis bridges, and resulting in the pairing/co-alignment of homologues (to a distance of ~400 nm in mice). Leptotene is followed by the zygotene stage, also known as zygonema , from Greek words meaning "paired threads", which in some organisms is also called the bouquet stage because of the way the telomeres cluster at one end of the nucleus. In this stage

8378-460: The homologs are segregated to separate daughter cells by the spindle apparatus . The cells then proceed to a second division without an intervening round of DNA replication. The sister chromatids are segregated to separate daughter cells to produce a total of four haploid cells. Female animals employ a slight variation on this pattern and produce one large ovum and three small polar bodies. Because of recombination, an individual chromatid can consist of

8496-402: The idiosyncratic rendering "maiosis": We propose to apply the terms Maiosis or Maiotic phase to cover the whole series of nuclear changes included in the two divisions that were designated as Heterotype and Homotype by Flemming . The spelling was changed to "meiosis" by Koernicke (1905) and by Pantel and De Sinety (1906) to follow the usual conventions for transliterating Greek . Meiosis

8614-417: The life cycle can occur either during the diploid state ( diplontic life cycle), during the haploid state ( haplontic life cycle), or both ( haplodiplontic life cycle), in which there are two distinct organism phases, one with haploid cells and the other with diploid cells. In the diplontic life cycle (with pre-gametic meiosis), as in humans, the organism is multicellular and diploid, grown by mitosis from

8732-458: The living organism alternates between haploid and diploid states. Consequently, this cycle is also known as the alternation of generations . The diploid organism's germ-line cells undergo meiosis to produce spores. The spores proliferate by mitosis, growing into a haploid organism. The haploid organism's gamete then combines with another haploid organism's gamete, creating the zygote. The zygote undergoes repeated mitosis and differentiation to produce

8850-556: The meiotic products form gametes such as sperm , spores or pollen . In female animals, three of the four meiotic products are typically eliminated by extrusion into polar bodies , and only one cell develops to produce an ovum . Because the number of chromosomes is halved during meiosis, gametes can fuse (i.e. fertilization ) to form a diploid zygote that contains two copies of each chromosome, one from each parent. Thus, alternating cycles of meiosis and fertilization enable sexual reproduction , with successive generations maintaining

8968-577: The metaphase plate during metaphase I and orientation of sister chromatids in metaphase II, this is the subsequent separation of homologs and sister chromatids during anaphase I and II, it allows a random and independent distribution of chromosomes to each daughter cell (and ultimately to gametes); and (2) Crossing Over . The physical exchange of homologous chromosomal regions by homologous recombination during prophase I results in new combinations of genetic information within chromosomes. However, such physical exchange does not always occur during meiosis. In

9086-704: The metaphase plate, with respect to the orientation of the other bivalents along the same equatorial line. The protein complex cohesin holds sister chromatids together from the time of their replication until anaphase. In mitosis, the force of kinetochore microtubules pulling in opposite directions creates tension. The cell senses this tension and does not progress with anaphase until all the chromosomes are properly bi-oriented. In meiosis, establishing tension ordinarily requires at least one crossover per chromosome pair in addition to cohesin between sister chromatids (see Chromosome segregation ). Kinetochore microtubules shorten, pulling homologous chromosomes (which each consist of

9204-431: The mitotic cell cycle. Therefore, meiosis includes the stages of meiosis I (prophase I, metaphase I, anaphase I, telophase I) and meiosis II (prophase II, metaphase II, anaphase II, telophase II). During meiosis, specific genes are more highly transcribed . In addition to strong meiotic stage-specific expression of mRNA , there are also pervasive translational controls (e.g. selective usage of preformed mRNA), regulating

9322-549: The molecular level can be caused by: Whereas in former times mutations were assumed to occur by chance, or induced by mutagens, molecular mechanisms of mutation have been discovered in bacteria and across the tree of life. As S. Rosenberg states, "These mechanisms reveal a picture of highly regulated mutagenesis, up-regulated temporally by stress responses and activated when cells/organisms are maladapted to their environments—when stressed—potentially accelerating adaptation." Since they are self-induced mutagenic mechanisms that increase

9440-400: The mutations are either neutral or slightly beneficial. Meiosis This is an accepted version of this page Meiosis ( / m aɪ ˈ oʊ s ɪ s / ; from Ancient Greek μείωσις ( meíōsis )  'lessening', (since it is a reductional division) is a special type of cell division of germ cells in sexually-reproducing organisms that produces

9558-417: The next stage. During the diplotene stage, also known as diplonema , from Greek words meaning "two threads", the synaptonemal complex disassembles and homologous chromosomes separate from one another a little. However, the homologous chromosomes of each bivalent remain tightly bound at chiasmata, the regions where crossing-over occurred. The chiasmata remain on the chromosomes until they are severed at

9676-452: The nucleus. The chromosomes each form a linear array of loops mediated by cohesin , and the lateral elements of the synaptonemal complex assemble forming an "axial element" from which the loops emanate. Recombination is initiated in this stage by the enzyme SPO11 which creates programmed double strand breaks (around 300 per meiosis in mice). This process generates single stranded DNA filaments coated by RAD51 and DMC1 which invade

9794-485: The number of chromosomes as the original parent cell. The two meiotic divisions are known as meiosis I and meiosis II . Before meiosis begins, during S phase of the cell cycle , the DNA of each chromosome is replicated so that it consists of two identical sister chromatids , which remain held together through sister chromatid cohesion. This S-phase can be referred to as "premeiotic S-phase" or "meiotic S-phase". Immediately following DNA replication, meiotic cells enter

9912-474: The number of chromosomes had to be maintained. In 1911, the American geneticist Thomas Hunt Morgan detected crossovers in meiosis in the fruit fly Drosophila melanogaster , which helped to establish that genetic traits are transmitted on chromosomes. The term "meiosis" is derived from the Greek word μείωσις , meaning 'lessening'. It was introduced to biology by J.B. Farmer and J.E.S. Moore in 1905, using

10030-513: The observable characteristics ( phenotype ) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution , cancer , and the development of the immune system , including junctional diversity . Mutation is the ultimate source of all genetic variation , providing the raw material on which evolutionary forces such as natural selection can act. Mutation can result in many different types of change in sequences. Mutations in genes can have no effect, alter

10148-470: The observed effects of increased probability for mutation in rapid spermatogenesis with short periods of time between cellular divisions that limit the efficiency of repair machinery. Rates of de novo mutations that affect an organism during its development can also increase with certain environmental factors. For example, certain intensities of exposure to radioactive elements can inflict damage to an organism's genome, heightening rates of mutation. In humans,

10266-417: The oocytes of the silkworm Bombyx mori , meiosis is completely achiasmate (lacking crossovers). Although synaptonemal complexes are present during the pachytene stage of meiosis in B. mori , crossing-over homologous recombination is absent between the paired chromosomes . Female mammals and birds are born possessing all the oocytes needed for future ovulations, and these oocytes are arrested at

10384-417: The paired homologous chromosomes align along an equatorial plane that bisects the spindle, due to continuous counterbalancing forces exerted on the bivalents by the microtubules emanating from the two kinetochores of homologous chromosomes. This attachment is referred to as a bipolar attachment. The physical basis of the independent assortment of chromosomes is the random orientation of each bivalent along with

10502-399: The pinching of the cell membrane in animal cells or the formation of the cell wall in plant cells, occurs, completing the creation of two daughter cells. However, cytokinesis does not fully complete resulting in "cytoplasmic bridges" which enable the cytoplasm to be shared between daughter cells until the end of meiosis II. Sister chromatids remain attached during telophase I. Cells may enter

10620-730: The ploidy is reduced from diploid to haploid, meiosis I is referred to as a reductional division . Meiosis II is an equational division analogous to mitosis, in which the sister chromatids are segregated, creating four haploid daughter cells (1n, 1c). Prophase I is by far the longest phase of meiosis (lasting 13 out of 14 days in mice ). During prophase I, homologous maternal and paternal chromosomes pair, synapse , and exchange genetic information (by homologous recombination ), forming at least one crossover per chromosome. These crossovers become visible as chiasmata (plural; singular chiasma ). This process facilitates stable pairing between homologous chromosomes and hence enables accurate segregation of

10738-620: The power of utility patents to block a similar invention, that was made independently from the patent owner, does not apply to plant patents. The legislation did not receive much popular attention until several decades later, during the development of plant breeders' rights through the UPOV 1961 treaty and the enactment of the US Plant Variety Protection Act of 1970 , which coincided with broader critiques of intellectual property and its relationship to human health, food security, and

10856-447: The prophase I stage of meiosis. In humans, as an example, oocytes are formed between three and four months of gestation within the fetus and are therefore present at birth. During this prophase I arrested stage ( dictyate ), which may last for decades, four copies of the genome are present in the oocytes. The arrest of ooctyes at the four genome copy stage was proposed to provide the informational redundancy needed to repair damage in

10974-479: The protein product if they affect mRNA splicing. Mutations that occur in coding regions of the genome are more likely to alter the protein product, and can be categorized by their effect on amino acid sequence: A mutation becomes an effect on function mutation when the exactitude of functions between a mutated protein and its direct interactor undergoes change. The interactors can be other proteins, molecules, nucleic acids, etc. There are many mutations that fall under

11092-415: The relative abundance of different types of mutations (i.e., strongly deleterious, nearly neutral or advantageous), is relevant to many evolutionary questions, such as the maintenance of genetic variation , the rate of genomic decay , the maintenance of outcrossing sexual reproduction as opposed to inbreeding and the evolution of sex and genetic recombination . DFE can also be tracked by tracking

11210-487: The remainder being either neutral or marginally beneficial. Mutation and DNA damage are the two major types of errors that occur in DNA, but they are fundamentally different. DNA damage is a physical alteration in the DNA structure, such as a single or double strand break, a modified guanosine residue in DNA such as 8-hydroxydeoxyguanosine , or a polycyclic aromatic hydrocarbon adduct. DNA damages can be recognized by enzymes, and therefore can be correctly repaired using

11328-431: The reproductive cells of an individual gives rise to a constitutional mutation in the offspring, that is, a mutation that is present in every cell. A constitutional mutation can also occur very soon after fertilization , or continue from a previous constitutional mutation in a parent. A germline mutation can be passed down through subsequent generations of organisms. The distinction between germline and somatic mutations

11446-466: The rights offered by the Plant Patent Act was arguably curtailed by the US Court of Appeals decision in 1995, Imazio Nursery Inc. v. Dania Greenhouses , 36 U.S.P.Q. 2d 1673, which held that "to establish infringement of a plant patent it is necessary to prove that the accused plant is derived from, i.e. a copy of, the actual plant which prompted the filing of the application for plant patent." In other words,

11564-453: The sake of scientific experimentation. One 2017 study claimed that 66% of cancer-causing mutations are random, 29% are due to the environment (the studied population spanned 69 countries), and 5% are inherited. Humans on average pass 60 new mutations to their children but fathers pass more mutations depending on their age with every year adding two new mutations to a child. Spontaneous mutations occur with non-zero probability even given

11682-401: The same mechanisms as mitosis , the type of cell division used by eukaryotes to divide one cell into two identical daughter cells. In some plants, fungi, and protists meiosis results in the formation of spores : haploid cells that can divide vegetatively without undergoing fertilization. Some eukaryotes, like bdelloid rotifers , do not have the ability to carry out meiosis and have acquired

11800-413: The same mutation. These types of mutations are usually prompted by environmental causes, such as ultraviolet radiation or any exposure to certain harmful chemicals, and can cause diseases including cancer. With plants, some somatic mutations can be propagated without the need for seed production, for example, by grafting and stem cuttings. These type of mutation have led to new types of fruits, such as

11918-561: The same number of chromosomes, occurs in all organisms that utilize meiosis. Meiosis occurs in all sexually-reproducing single-celled and multicellular organisms (which are all eukaryotes ), including animals , plants and fungi . It is an essential process for oogenesis and spermatogenesis . Although the process of meiosis is related to the more general cell division process of mitosis , it differs in two important respects: usually occurs between identical sister chromatids and does not result in genetic changes Meiosis begins with

12036-465: The same number of chromosomes. For example, diploid human cells contain 23 pairs of chromosomes including 1 pair of sex chromosomes (46 total), half of maternal origin and half of paternal origin. Meiosis produces haploid gametes (ova or sperm) that contain one set of 23 chromosomes. When two gametes (an egg and a sperm) fuse, the resulting zygote is once again diploid, with the mother and father each contributing 23 chromosomes. This same pattern, but not

12154-405: The second meiotic division. In metaphase II , the centromeres contain two kinetochores that attach to spindle fibers from the centrosomes at opposite poles. The new equatorial metaphase plate is rotated by 90 degrees when compared to meiosis I, perpendicular to the previous plate. This is followed by anaphase II , in which the remaining centromeric cohesin, not protected by Shugoshin anymore,

12272-657: The single-stranded human immunodeficiency virus ), replication occurs quickly, and there are no mechanisms to check the genome for accuracy. This error-prone process often results in mutations. The rate of de novo mutations, whether germline or somatic, vary among organisms. Individuals within the same species can even express varying rates of mutation. Overall, rates of de novo mutations are low compared to those of inherited mutations, which categorizes them as rare forms of genetic variation . Many observations of de novo mutation rates have associated higher rates of mutation correlated to paternal age. In sexually reproducing organisms,

12390-452: The sister chromatids from separating. This allows the sister chromatids to remain together while homologs are segregated. The first meiotic division effectively ends when the chromosomes arrive at the poles. Each daughter cell now has half the number of chromosomes but each chromosome consists of a pair of chromatids. The microtubules that make up the spindle network disappear, and a new nuclear membrane surrounds each haploid set. Cytokinesis,

12508-408: The skewness of the distribution of mutations with putatively severe effects as compared to the distribution of mutations with putatively mild or absent effect. In summary, the DFE plays an important role in predicting evolutionary dynamics . A variety of approaches have been used to study the DFE, including theoretical, experimental and analytical methods. One of the earliest theoretical studies of

12626-416: The structure of genes can be classified into several types. Large-scale mutations in chromosomal structure include: Small-scale mutations affect a gene in one or a few nucleotides. (If only a single nucleotide is affected, they are called point mutations .) Small-scale mutations include: The effect of a mutation on protein sequence depends in part on where in the genome it occurs, especially whether it

12744-565: The studied plant ( Arabidopsis thaliana )—more important genes mutate less frequently than less important ones. They demonstrated that mutation is "non-random in a way that benefits the plant". Additionally, previous experiments typically used to demonstrate mutations being random with respect to fitness (such as the Fluctuation Test and Replica plating ) have been shown to only support the weaker claim that those mutations are random with respect to external selective constraints, not fitness as

12862-425: The template strand. In mice , the majority of mutations are caused by translesion synthesis. Likewise, in yeast , Kunz et al. found that more than 60% of the spontaneous single base pair substitutions and deletions were caused by translesion synthesis. Although naturally occurring double-strand breaks occur at a relatively low frequency in DNA, their repair often causes mutation. Non-homologous end joining (NHEJ)

12980-446: The transition to anaphase I to allow homologous chromosomes to move to opposite poles of the cell. In human fetal oogenesis , all developing oocytes develop to this stage and are arrested in prophase I before birth. This suspended state is referred to as the dictyotene stage or dictyate. It lasts until meiosis is resumed to prepare the oocyte for ovulation, which happens at puberty or even later. Chromosomes condense further during

13098-428: The two haploid cells (with n chromosomes, each consisting of two sister chromatids) produced in meiosis I. The four main steps of meiosis II are: prophase II, metaphase II, anaphase II, and telophase II. In prophase II , we see the disappearance of the nucleoli and the nuclear envelope again as well as the shortening and thickening of the chromatids. Centrosomes move to the polar regions and arrange spindle fibers for

13216-756: The type of mutation and base or amino acid changes. Mutation rates vary substantially across species, and the evolutionary forces that generally determine mutation are the subject of ongoing investigation. In humans , the mutation rate is about 50–90 de novo mutations per genome per generation, that is, each human accumulates about 50–90 novel mutations that were not present in his or her parents. This number has been established by sequencing thousands of human trios, that is, two parents and at least one child. The genomes of RNA viruses are based on RNA rather than DNA. The RNA viral genome can be double-stranded (as in DNA) or single-stranded. In some of these viruses (such as

13334-413: The ultimate meiotic stage-specific protein expression of genes during meiosis. Thus, both transcriptional and translational controls determine the broad restructuring of meiotic cells needed to carry out meiosis. Meiosis I segregates homologous chromosomes , which are joined as tetrads (2n, 4c), producing two haploid cells (n chromosomes, 23 in humans) which each contain chromatid pairs (1n, 2c). Because

13452-451: The vast majority of novel mutations are neutral or deleterious and that advantageous mutations are rare, which has been supported by experimental results. One example is a study done on the DFE of random mutations in vesicular stomatitis virus . Out of all mutations, 39.6% were lethal, 31.2% were non-lethal deleterious, and 27.1% were neutral. Another example comes from a high throughput mutagenesis experiment with yeast. In this experiment it

13570-401: The yeast Schizosaccharomyces pombe with hydrogen peroxide increased the frequency of mating and the formation of meiotic spores by 4 to 18-fold. Volvox carteri , a haploid multicellular, facultatively sexual green algae, can be induced by heat shock to reproduce by meiotic sex. This induction can be inhibited by antioxidants indicating that the induction of meiotic sex by heat shock

13688-463: The ‘sports’ or spontaneous mutations from which they bred new varieties often occurred naturally, the skill of identifying the mutation, isolating it, and then reproducing it was a work of invention." Uniquely, the Plant Patent Act "eliminated the standard industrial patent requirement that the invention be described sufficiently well to enable someone skilled in the art to reproduce it." The need for this new type of patents (plant patents) arises from

13806-404: Was likely present in the common ancestor of eukaryotes. The new combinations of DNA created during meiosis are a significant source of genetic variation alongside mutation, resulting in new combinations of alleles , which may be beneficial. Meiosis generates gamete genetic diversity in two ways: (1) Law of Independent Assortment . The independent orientation of homologous chromosome pairs along

13924-432: Was shown that the overall DFE is bimodal, with a cluster of neutral mutations, and a broad distribution of deleterious mutations. Though relatively few mutations are advantageous, those that are play an important role in evolutionary changes. Like neutral mutations, weakly selected advantageous mutations can be lost due to random genetic drift, but strongly selected advantageous mutations are more likely to be fixed. Knowing

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