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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]
For example, minisatellite DNA is a short region (1-5 kb) of repeating elements with length >9 nucleotides. Whereas microsatellites in DNA sequences are considered to have a length of 1-8 nucleotides. [8] The difference in how many of the repeats is present in the region (length of the region) is the basis for DNA profiling. [citation needed]
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]
In genetics, a minisatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 10–60 base pairs) are typically repeated two to several hundred times. [1] Minisatellites occur at more than 1,000 locations in the human genome and they are notable for their high mutation rate and high diversity in the population. [2]
DNA polymerase slippage is more likely to occur when a repetitive sequence (such as CGCGCG) is replicated. Because microsatellites consist of such repetitive sequences, DNA polymerase may make errors at a higher rate in these sequence regions. Several studies have found evidence that slippage is the cause of microsatellite mutations.
Non-functional DNA elements such as pseudogenes and repetitive DNA, both of which are types of junk DNA, can also be found in intergenic regions—although they may also be located within genes in introns. [2] It is possible that these regions contain as of yet unidentified functional elements, such as non-coding genes or regulatory sequences. [3]
A historic example of L1-conferred disease is Haemophilia A, which is caused by insertional mutagenesis. [35] There are nearly 100 examples of known diseases caused by retroelement insertions, including some types of cancer and neurological disorders. [36]
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.