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Paleopolyploidy is the result of genome duplications which occurred at least several million years ago (MYA). Such an event could either double the genome of a single species (autopolyploidy) or combine those of two species (allopolyploidy). Because of functional redundancy, genes are rapidly silenced or lost from the duplicated genomes. Most paleopolyploids, through evolutionary time, have lost their polyploid status through a process called diploidization, and are currently considered diploids e.g. baker's yeast, "Arabidopsis thaliana", and perhaps humans.
Paleopolyploidy is extensively studied in plant lineages. It has been found that almost all flowering plants have undergone at least one round of genome duplication at some point during their evolutionary history. Ancient genome duplications are also found in the early ancestor of vertebrates (which includes the human lineage) and another near the origin of the bony fishes. Evidence suggests that baker's yeast ("Saccharomyces cerevisiae"), which has a compact genome, experienced polyploidization during its evolutionary history.
The term "mesopolyploid" is sometimes used for species that have undergone whole genome multiplication events (whole genome duplication, whole genome triplification, etc.) in more recent history, such as within the last 17 million years.
Polyploid cells and organisms are those containing more than two paired (homologous) sets of chromosomes. Most species whose cells have nuclei (Eukaryotes) are diploid, meaning they have two sets of chromosomes—one set inherited from each parent. However, polyploidy is found in some organisms and is especially common in plants. In addition, polyploidy occurs in some tissues of animals that are otherwise diploid, such as human muscle tissues. This is known as endopolyploidy. Species whose cells do not have nuclei, that is, Prokaryotes, may be polyploid organisms, as seen in the large bacterium "Epulopiscium fishelsoni" . Hence ploidy is defined with respect to a cell. Most eukaryotes have diploid somatic cells, but produce haploid gametes (eggs and sperm) by meiosis. A monoploid has only one set of chromosomes, and the term is usually only applied to cells or organisms that are normally diploid. Male bees and other Hymenoptera, for example, are monoploid. Unlike animals, plants and multicellular algae have life cycles with two alternating multicellular generations. The gametophyte generation is haploid, and produces gametes by mitosis, the sporophyte generation is diploid and produces spores by meiosis.
Polyploidy refers to a numerical change in a whole set of chromosomes. Organisms in which a particular chromosome, or chromosome segment, is under- or overrepresented are said to be aneuploid (from the Greek words meaning "not", "good", and "fold"). Therefore, the distinction between aneuploidy and polyploidy is that aneuploidy refers to a numerical change in part of the chromosome set, whereas polyploidy refers to a numerical change in the whole set of chromosomes.
Polyploidy may occur due to abnormal cell division, either during mitosis, or commonly during metaphase I in meiosis. In addition, it can be induced in plants and cell cultures by some chemicals: the best known is colchicine, which can result in chromosome doubling, though its use may have other less obvious consequences as well. Oryzalin will also double the existing chromosome content.
Polyploidy occurs in highly differentiated human tissues in the liver, heart muscle and bone marrow. It occurs in the somatic cells of some animals, such as goldfish, salmon, and salamanders, but is especially common among ferns and flowering plants (see "Hibiscus rosa-sinensis"), including both wild and cultivated species. Wheat, for example, after millennia of hybridization and modification by humans, has strains that are diploid (two sets of chromosomes), tetraploid (four sets of chromosomes) with the common name of durum or macaroni wheat, and hexaploid (six sets of chromosomes) with the common name of bread wheat. Many agriculturally important plants of the genus "Brassica" are also tetraploids.
Polyploidization is a mechanism of sympatric speciation because polyploids are usually unable to interbreed with their diploid ancestors. An example is the plant "Erythranthe peregrina". Sequencing confirmed that this species originated from "E. x robertsii", a sterile triploid hybrid between "E. guttata" and "E. lutea," both of which have been introduced and naturalised in the United Kingdom. New populations of "E. peregrina" arose on the Scottish mainland and the Orkney Islands via genome duplication from local populations of "E. x robertsii". Because of a rare genetic mutation, "E. peregrina" is not sterile.
Polyploid types are labeled according to the number of chromosome sets in the nucleus. The letter "x" is used to represent the number of chromosomes in a single set.
- triploid (three sets; 3"x"), for example seedless watermelons, common in the phylum Tardigrada
- tetraploid (four sets; 4"x"), for example Salmonidae fish, the cotton "Gossypium hirsutum "
- pentaploid (five sets; 5"x"), for example Kenai Birch ("Betula papyrifera" var. "kenaica")
- hexaploid (six sets; 6"x"), for example wheat, kiwifruit
- heptaploid or septaploid (seven sets; 7"x")
- octaploid or octoploid, (eight sets; 8"x"), for example "Acipenser" (genus of sturgeon fish), dahlias
- decaploid (ten sets; 10"x"), for example certain strawberries
- dodecaploid (twelve sets; 12"x"), for example the plants "Celosia argentea" and "Spartina anglica" or the amphibian "Xenopus ruwenzoriensis".
Paleopolyploidization events lead to massive cellular changes, including doubling of the genetic material, changes in gene expression and increased cell size. Gene loss during diploidization is not completely random, but heavily selected. Genes from large gene families are duplicated. On the other hand, individual genes are not duplicated. Overall, paleopolyploidy can have both short-term and long-term evolutionary effects on an organism's fitness in the natural environment.
- Genome diversity : Genome doubling provided the organism with redundant alleles that can evolve freely with little selection pressure. The duplicated genes can undergo neofunctionalization or subfunctionalization which could help the organism adapt to the new environment or survive different stress conditions.
- Heterosis : Polyploids often have larger cells and even larger organs. Many important crops, including wheat, maize and cotton, are paleopolyploids which were selected for domestication by ancient peoples.
- Speciation : It has been suggested that many polyploidization events created new species, via a gain of adaptive traits, or by sexual incompatibility with their diploid counterparts. An example would be the recent speciation of allopolyploid Spartina — S. anglica; the polyploid plant is so successful that it is listed as an invasive species in many regions.