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Repeated sequences (also known as repetitive elements, repeating units or repeats) are short or long patterns that occur in multiple copies throughout the genome.In many organisms, a significant fraction of the genomic DNA is repetitive, with over two-thirds of the sequence consisting of repetitive elements in humans. [1]
Since a sequence of single-stranded DNA needs to find its complementary strand to reform a double helix, common sequences renature more rapidly than rare sequences. Indeed, the rate at which a sequence will reassociate is proportional to the number of copies of that sequence in the DNA sample. A sample with a highly-repetitive sequence will ...
A tract of repetitive DNA in which a motif of a few base pairs is tandemly repeated numerous times (e.g. 5 to 50 times) is referred to as microsatellite DNA. Thus direct repeat tandem sequences are a form of microsattelite DNA. The process of DNA mismatch repair plays a prominent role in the formation of direct trinucleotide repeat expansions. [2]
The system of DNA profiling used today is based on PCR and uses simple sequences [6] or short tandem repeats (STR). This method uses highly polymorphic regions that have short repeated sequences of DNA (the most common is 4 bases repeated, but there are other lengths in use, including 3 and 5 bases).
Resulting sequence usually lack introns and often contain poly(A) sequences that are also integrated into the genome. Many retrogenes display changes in gene regulation in comparison to their parental gene sequences, which sometimes results in novel functions. Retrogenes can move between different chromosomes to shape chromosomal evolution. [3]
In people without the disease this sequence is repeated just 15 to 35 times. They discovered that DNA tracts with 40 or more such “repeats” expand over time until they are hundreds of CAGs long. Once CAGs reach a threshold of about 150, certain types of neurons sicken and die.
Interspersed repetitive DNA is found in all eukaryotic genomes. They differ from tandem repeat DNA in that rather than the repeat sequences coming right after one another, they are dispersed throughout the genome and nonadjacent. The sequence that repeats can vary depending on the type of organism, and many other factors.
When a DNA trinucleotide repeat sequence is damaged, it may be repaired by processes such as homologous recombination, non-homologous end joining, mismatch repair or base excision repair. Each of these processes involves a DNA synthesis step in which strand slippage might occur leading to trinucleotide repeat expansion. [4]