Polyploidy

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In eukaryotic organisms, chromosomes come in sets. The somatic cells, called soma, usually have a diploid chromosome number, which in scientific notation is abbreviated as 2N. The diploid state contains two sets of chromosomes, one set of which has been contributed by each parent. A single set of chromosomes composes the haploid chromosome number, which is abbreviated as N. The haploid set is found in reproductive cells or gametes (also called the germplasm). In humans the diploid number is 46, and is represented as 2N = 46. Human sperm or eggs, however, have a haploid number of 23, which is represented as N = 23. In some circumstances, however, an organism can have more than two chromosomal sets. This occurrence is called polyploidy.

One cause of polyploidy is polyspermy. If two sperm fertilize an egg, the resulting zygote or fertilized egg will have three sets of chromosomes,and thus have a triploid number (3N). When this occurs in humans, 3N = 96. Triploidy in humans and most other animals is incompatible with life. Triploid individuals abort or fail to survive the first days of life after birth. Polyploidy is more common in plants, and polyploid forms often survive to produce much larger cells and plant organs. Ferns, which may have up to 1,500 chromosomes, are frequently polyploid, as are varieties of domesticated cereal plants. Most often, polyploids run in sets of three to eight (triploid to octoploid).

Geneticist Hermann Muller argued that polyploidy is more rare in animals than plants because animals have a more complex development, with more organ systems that are fine-tuned to dosages of genes. Any given gene is represented three times in a triploid. If the amount (dosage) of gene product causes a heart, brain, or other vital organ not to form, the embryo will abort. When these developmental genes produce too much or too little of the products that induce organ formation, as they might if there are too many or too few copies of the genes, events occur too soon or too late to be coordinated. Muller raised the possibility that the sex chromosomes serve as a barrier to polyploidy in most animals. Plants, by contrast, do not usually have sex chromosomes, and thus this sexual reproductive barrier is not a problem for them.

Muller noted that most animals use a sex-chromosome mechanism for sex determination. In fruit flies and humans, diploid males have the sex chromosomes XY, whereas diploid females have XX. A triploid fly or human would have three chromosomes along with three sets of autosomes. In such a triploid, XXX will result in a female. However, a zygote having XXY XYY may not produce a male. Rather, it may result in an intersex organism, with abnormal mixed male and female reproductive organs.

While human triploids do not survive, this is not the case for fruit flies. The XXY or XYY is an intersex, sterile form, but the triploid female is fertile. If the 3N female is mated to a 2N XY male, however, only a relatively few offspring will emerge, because many of the eggs will have an incorrect number of chromosomes. This state of excesses or deficits of chromosomes in an otherwise diploid or triploid cell is called aneuploidy. Aneuploid embryos rarely survive in humans or other animals, although there are exceptions (such as infants born with Down syndrome).

Human triploid embryos are a major reason for first-trimester spontaneous abortions (popularly called miscarriages). Polyploid amphibians, on the other hand, have evolved an alternate means of sex determination that allows them to have fertile triploid or tetraploid (4N) forms. As with polyploid plants, these forms are generally larger in size than their diploid relatives. It is not yet known why stillborn or short-lived human triploids do not display this enlarged size.

Polyploidy can be induced with chemicals such as colchicine, as O. J. Eigsti first demonstrated in 1935. His work extended that done by F. A. Blakeslee, and the technique he used has been adopted commercially to produce products such as seedless watermelon. The seeds are missing because the embryos abort from aneuploidy before they can form seeds.

In nature there are different kinds of polyploids. An autopolyploid plant has all its chromosomes derived from one haploid set. An allopolyploid plant has its sets derived from two different plant species. In general, allopolyploidsare fertile and survive, whereas autopolyploids are sterile and must be propagated as clones (identical twins), by cuttings.

The difference between autopolyploidy and allopolyploidy can be appreciated by an example. No one knows the reasons for mitotic failure leading to spontaneous tetraploids, but artificial ones are induced by mitotic poisons, like colchicine, that prevent spindle fiber formation. If one species has chromosomes ABCD in a (haploid) gamete, and a related species has chromosomes FGHI, the resulting (diploid) zygote will have a chromosome set consisting of ABCDFGHI. If that collection of chromosomes undergoes a spontaneous doubling, the resulting plant is AABBCCDDFFGGHHII. Such a plant will produce ABCDFGHI gametes and by self-pollination, which is common in many flowering plants, the new allopolyploid will be fertile.

In the case of autopolyploids, by contrast, the chromosomes ABCD become triplicated (3N: AAABBBCCCDDD) or quadruplicated (4N: AAAABBBBCCCCDDDD). This may lead to nondisjunctional separations during meiosis, wherein the chromosomes will divide improperly or incompletely. In the 3N plant many of the gametes may be AABCDD or ABCCD or other variations of aneuploidy that will disturb embryonic development.

Among familiar plant polyploids are strains of wheat with chromosome numbers of 14 (2N), 28 (4N), and 42(6N), all of which are based on an ancestral form whose haploid number was 7. Chrysanthemums have a series of varieties with a range of chromosome numbers: 18, 36, 54, 72, and 90. The ancestral haploid is assumed to be 9. About half of all flowering plant species are believed to have polyploid varieties. If an accidental doubling of the zygote chromosome number is the major mechanism involved, most of these forms are tetraploid.

The transmission of genetic traits in polyploids is more difficult to calculate than in diploids because a gene for a recessive trait in a triploid, for example, would have to appear in the same location on all three of its homologous chromosomes in order for it to be phenotypically apparent. Such calculations, when done for diploids, rely upon binomial equations and generate a familiar ratio of 9AB:3aB:3Ab:1ab, whereas the calculations for polyploid plants require the use of trinomial equations for triploids and quadrinomial equations for tetraploids, instead of the traditional binomial (A + B)² that generates the familiar 9AB:3aB:3Ab:1ab ratio for diploids. Thus for a trinomial (three gene) the equation will be the expansion of (A + B + C)³.

The use of polyploids in laboratory research has allowed research into the function of specific genes. For instance, triploid female fruit flies crossed to diploid males were used to create a diploid offspring with a chromosome of a sibling species. In this experiment, the tiny fourth chromosome of Drosophila simulans was inserted into an otherwise diploid D. melanogaster offspring. This permitted analysis of the genes shared in common (most of them) as well as gene differences that led to visible malformations in the hybrid fly. Triploid flies have also been crossed to irradiated diploid males to prove that X rays induce breaks in chromosomes, causing apoptosis andembryonic abortion.

Chromosomal Aberrations; Meiosis; Muller, Hermann; Sex Determination; X Chromosome; Y Chromosome.

Muller, H. J. "Why Polyploidy is Rarer in Animals than in Plants." The American Naturalist LIX (1925): 346-353.

Dobzhansky, Theodosius. "Patterns of Evolution." In Genetics and the Origin of Species,Theodosius Dobzhansky, ed. New York: Columbia University Press, 1951.

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