Alu element

An Alu element is a short stretch of DNA originally characterized by the action of the Arthrobacter luteus (Alu) restriction endonuclease.[1] Alu elements are the most abundant transposable elements in the human genome, present in excess of one million copies.[2] Alu elements were thought to be selfish or parasitic DNA, because their sole known function is self reproduction. However, they are likely to play a role in evolution and have been used as genetic markers.[3][4] They are derived from the small cytoplasmic 7SL RNA, a component of the signal recognition particle. Alu elements are highly conserved within primate genomes and originated in the genome of an ancestor of Supraprimates.[5]

Alu insertions have been implicated in several inherited human diseases and in various forms of cancer.

The study of Alu elements has also been important in elucidating human population genetics and the evolution of primates, including the evolution of humans.

Karyotype from a female human lymphocyte (46, XX). Chromosomes were hybridized with a probe for Alu elements (green) and counterstained with TOPRO-3 (red). Alu elements were used as a marker for chromosomes and chromosome bands rich in genes.
  1. ^ Schmid, Carl W; Deininger, Prescott L (1975). "Sequence organization of the human genome". Cell. 6 (3): 345–58. doi:10.1016/0092-8674(75)90184-1. PMID 1052772. S2CID 42804857.
  2. ^ Szmulewicz, Martin N; Novick, Gabriel E; Herrera, Rene J (1998). "Effects of Alu insertions on gene function". Electrophoresis. 19 (8–9): 1260–4. doi:10.1002/elps.1150190806. PMID 9694261. S2CID 45917758.
  3. ^ Kidwell, Margaret G; Lisch, Damon R (2001). "Perspective: Transposable Elements, Parasitic Dna, and Genome Evolution". Evolution. 55 (1): 1–24. doi:10.1554/0014-3820(2001)055[0001:ptepda]2.0.co;2. PMID 11263730. S2CID 25273865.
  4. ^ Pray, Leslie (2008). "Functions and Utility of Alu Jumping Genes". Scitable.com. Nature. Retrieved 26 June 2019.
  5. ^ Kriegs, Jan Ole; Churakov, Gennady; Jurka, Jerzy; Brosius, Jürgen; Schmitz, Jürgen (2007). "Evolutionary history of 7SL RNA-derived SINEs in Supraprimates". Trends in Genetics. 23 (4): 158–61. doi:10.1016/j.tig.2007.02.002. PMID 17307271.