Indel
Indel(insertion-deletion) is a molecular biology term for aninsertionordeletionofbasesin thegenomeof an organism. Indels ≥ 50 bases in length are classified asstructural variants.[1][2]
Incoding regionsof the genome, unless the length of an indel is a multiple of 3, it will produce aframeshift mutation.For example, a common microindel which results in a frameshift causesBloom syndromein the Jewish or Japanese population.[3]Indels can be contrasted with apoint mutation.An indel inserts or deletes nucleotides from a sequence, while a point mutation is a form of substitution thatreplacesone of thenucleotideswithout changing the overall number in the DNA. Indels can also be contrasted with Tandem Base Mutations (TBM), which may result from fundamentally different mechanisms.[4]A TBM is defined as a substitution at adjacent nucleotides (primarily substitutions at two adjacent nucleotides, but substitutions at three adjacent nucleotides have been observed).[5]
Indels, being either insertions, or deletions, can be used as genetic markers in natural populations, especially inphylogeneticstudies.[6][7]It has been shown that genomic regions with multiple indels can also be used for species-identification procedures.[8][9][10]
An indel change of a single base pair in the coding part of anmRNAresults in a frameshift during mRNA translation that could lead to an inappropriate (premature)stop codonin a different frame. Indels that are not multiples of 3 are particularly uncommon in coding regions but relatively common in non-coding regions.[11][12]There are approximately 192-280 frameshifting indels in each person.[13]Indels are likely to represent between 16% and 25% of all sequence polymorphisms in humans.[14]In most known genomes, including humans, indel frequency tends to be markedly lower than that ofsingle nucleotide polymorphisms (SNP),except near highly repetitive regions, includinghomopolymersandmicrosatellites.[15]
The term "indel" has been co-opted in recent years by genomescientistsfor use in the sense described above. This is a change from its original use and meaning, which arose fromsystematics.In systematics, researchers could find differences between sequences, such as from two different species. But it was impossible to infer if one species lost the sequence or the other species gained it. For example, speciesAhas a run of 4Gnucleotides at a locus and speciesBhas 5 G's at the same locus. If the mode of selection is unknown, one can not tell if species A lost one G (a "deletion" event ") or species B gained one G (an" insertion "event). When one cannot infer thephylogeneticdirection of the sequence change, the sequence change event is referred to as an "indel".[citation needed]
Using passenger-immunoglobulin mouse models, a study found that the most prevalent indel events are the activation-induced cytidine deaminase (AID)-dependent ±1-base pair (bp) indels, which can lead to deleterious outcomes, whereas longer in-frame indels were rare outcomes.[16]
See also
[edit]References
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