Transposable Element - in Disease

In Disease

TEs are mutagens. They can damage the genome of their host cell in different ways :

  • a transposon or a retroposon that inserts itself into a functional gene will most likely disable that gene;
  • after a DNA 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 and meiosis, resulting in unequal crossovers, one of the main reasons for chromosome duplication.

Diseases that are often caused by TEs include hemophilia A and B, severe combined immunodeficiency, porphyria, predisposition to cancer, and Duchenne muscular dystrophy.

Additionally, many TEs contain promoters which drive transcription of their own transposase. These promoters can cause aberrant expression of linked genes, causing disease or mutant phenotypes.

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