Chromosome . (2) Centromere. The point where the two chromatids touch, and where the microtubules attach. (3) Short arm. (4) Long arm.]]\nA chromosome is, minimally, a very long, continuous piece of DNA, which contains many genes, regulatory elementss and other intervening nucleotide sequences. In the chromosomes of eukaryotes, the uncondensed DNA exists in a quasi-ordered structure inside the nucleus, where it wraps around histones (structural proteins, Fig. 1), and where this composite material is called chromatin. During mitosis (cell division), the chromosomes are condensed and called metaphasic chromosomes. This is the only natural context in which individual chromosomes are visible with an optical microscope. Prokaryotes do not possess histones or nuclei. In its relaxed state, the DNA can be accessed for transcription, regulation, and replication. Chromosomes were first observed by Karl Wilhelm von Nägeli in 1842 and their behavior later described in detail by Walther Flemming in 1882. In 1910, Thomas Hunt Morgan proved that chromosomes are the carriers of genes.
Normal members of a particular species all have the same number of chromosomes (Table 1). Asexually reproducing species have one set of chromosomes, which is the same in all body cells. Sexually reproducing species have somatic cells (body cells), which are diploid [2n] (they have two sets of chromosomes, one from the mother, one from the father) or polyploid [Xn] (more than two sets of chromosomes), and gametes (reproductive cells) which are haploid [n] (they have only one set of chromosomes). Gametes are produced by meiosis of a diploid germ line cell. During meiosis, the matching chromosomes of father and mother can exchange small parts of themselves (crossover), and thus create new chromosomes that are not inherited solely from either parent. When a male and a female gamete merge (fertilization), a new diploid organism is formed. \nKaryogram\nTo determine the (diploid) number of chromosomes of an organism, cells can be locked in metaphase in vitro (in a reaction vial) with colchicine. These cells are then stained (the name chromosome was given because of their ability to be stained), photographed and arranged into a karyogram (an ordered set of chromosomes, Fig. 3), also called karyotype. Like many sexually reproducing species, humans have special gonosomes (sex chromosomes, in\ncontrast to autosomes for body functions). These are XX in females and XY in males. In females, one of the two X chromosomes is inactive and can be seen under a microscope as Barr bodies.Chromosomal aberrations\nThe malfunction of either the chromosomal segregation or the crossover can\nlead to severe diseases. They can be divided into two classes:\n*Chromosomal aberration or Partial chromosomal dysplasia (malformation), which are usually the result of a defective crossover. Examples are:\n**Cri du chat syndrome, which is caused by the deletion of part of the short arm of chromosome 5. Victims make high-pitched cries that sounds like a cat. They have wide-set eyes, a small head and jaw and are mentally retarded.\n**Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4. It is characterized by severe growth retardation and mental defect.\n*Missing or additional chromosomes, called aneuploidy, which are the result of an incomplete chromosomal segregation, many of which are associated with cancer. Examples are:\n**Down syndrome (extra chromosome 21). This is also know as mongolism or trisomy 21. Symptoms are decreased muscle tone, asymmetrical skull, slanting eyes and mental retardation.\n**Klinefelters Syndrome (XXY). Men with Klinefelter syndrome are usually sterile. They tend to have longer arms and legs and tend to be taller than their peers. Other common symptoms are fatigue, apathy, lack of emotion, and an increased tendency to develop psychiatric disorders.\n**Turner syndrome (X instead of XX or XY). In Turner syndrome, female sexual characteristics are present but underdeveloped. People with Turner syndrome often have a short stature, low hairline, abnormal eye features and bone development and a "caved-in" appearance to the chest.\nYou can find a detailed graphical display of all human chromosomes and the diseases annotated at the correct spot at [1].External links\n*Chromosome News from Genome News Network See also:\n*sex-determination system\n*XYY\n*Genetic deletion\n\n\n\n\n\n\n\n\n\nCategory:Genetics |
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"Each problem that I solved became a rule which served afterwards to solve other problems." - Rene Descartes (1596-1650), "Discours de la Methode" |
. (2) Centromere. The point where the two chromatids touch, and where the microtubules attach. (3) Short arm. (4) Long arm.]]\nA chromosome is, minimally, a very long, continuous piece of
with centromere. (4) Condensed chromatin during
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