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transposon (jumping gene, transposable element, mobile genetic element, selfish DNA)

Sequence of mobile DNA able to move to different positions within the genome of a single cell (transposition). In the process of transposition, they may cause mutations &/or change the amount of DNA in the genome. Found in all major branches of life. Classification: May be grouped based on their mechanism of transposition: - retrotransposons (class 1) - class 2 transposons (DNA transposons) The most common form of transposon in humans is the Alu sequence Physiology: - may have provided a means of producing antibody diversity - V(D)J recombination system operates by a mechanism similar to that of transposons - evolution of autosomal retrogenes from X-linked progenitors compensates for X-chromosome silencing during male meiosis Pathology: - transposons are mutagens - they can damage the genome of their host cell: - a transposon or a retroposon that inserts itself into a functional gene will most likely disable that gene - after a transposon leaves a gene, the resulting gap will probably not be repaired correctly - multiple copies of the same sequence, such as Alu sequences can hinder precise chromosomal pairing during mitosis, resulting in unequal crossovers, one of the main reasons for chromosome duplication - diseases often caused by transposons include: - hemophilia A, hemophilia B - severe combined immunodeficiency - porphyria - Duchenne muscular dystrophy - transposons may predispose to cancer - many transposons contain promoters which drive transcription of their own transposase; these promoters can cause aberrant expression of linked genes, causing disease or mutant phenotypes Mechanisms adapted for reducing transposon activity include: - gene deletion - RNA interference (RNAi) Transposons are used as a research tool to alter DNA inside a living organism. Transposons make up a large fraction of genome sizes of eukaryotic species (40% of human DNA) [3]

Related

gene

Specific

class 2 transposon (DNA transposon) retrotransposon (class 1 transposon)

General

deoxyribonucleic acid (DNA)

References

  1. Wikipedia, the free encyclopedia http://en.wikipedia.org/wiki/Transposon
  2. McClintock, B. The origin and behavior of mutable loci in maize. Proc Natl Acad Sci U S A. (1950) 36(6): 344-55. PMID: 15430309
  3. Grandi N, Tramontano E. Human Endogenous Retroviruses Are Ancient Acquired Elements Still Shaping Innate Immune Responses. Frontiers in Immunology, 2018. Sept 10 PMID: 30250470 PMCID: PMC6139349 Free PMC article