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.
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2 The Alu fossil record 3 Alu insertions and human disease 4 References |
The Alu family
Alu sequences are about 300 base pairs long
and are therefore classified as short interspersed elements (SINEs)
amongst the class of repetitive DNA elements.
There are over 1 million Alu sequences interspersed throughout the human genome, and it is estimated that about 10% of the mass of the human genome consists of Alu sequences. However less than 0.5% are polymorphic [Roy-Engel 2001].
The recognition sequence of the Alu endonuclease is 5' AG/CT 3'; that is, the enzyme splits the DNA segment between the guanine and cytosine.
Alu sequences are retroposons and look like DNA copies of mRNA.
Most human Alu sequence insertions can be found in the corresponding positions in the genomes of other primates, but about 2,000 Alu insertions are unique to humans.
The first report of Alu-mediated recombination causing a prevalent,
inherited predisposition to cancer was a 1995 report
about hereditary nonpolyposis colorectal cancer [Nystrom-Lahti].
In the review article referenced below [Batzer 2002], the authors
report that the following human diseases have been linked with Alu insertions:
The Alu fossil record
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 ancestor.Alu insertions and human disease
Alu insertions are sometimes disruptive and can result in inherited disorders.References