Alu insertions have been implicated in several inherited human diseases, including various forms of cancer, as discussed later in this article.
The study of Alu sequences has also been important in elucidating human population genetics and the evolution of primates, including the evolution of humans. The Alu endonuclease is so-named because it was isolated from Arthrobacter luteus.
There are over one million Alu sequences interspersed throughout the human genome, and it is estimated that about 10% of the human genome consists of Alu sequences. However less than 0.5% are polymorphic.
Alu sequences are retrotransposons and look like DNA copies made from RNA polymerase III-encoded RNAs.
Alu sequences in primates form a fossil record that is relatively easy to decipher because Alu sequence insertion events have a characteristic signature that is both easy to read and faithfully recorded in the genome from generation to generation. The study of Alu sequences thus reveals details of ancestry because individuals will only share a particular Alu sequence insertion if they have a common sexual ancestor.
Most human Alu sequence insertions can be found in the corresponding positions in the genomes of other primates, but about 7,000 Alu insertions are unique to humans.
In the review article referenced below , the authors report that the following human diseases have been linked with Alu insertions:
Researchers from Bar Ilan University report details of new studies and findings in the area of nucleic acids research.
Oct 23, 2010; Fresh data on nucleic acids research are presented in the report 'Evidence for large diversity in the human transcriptome created...