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The repeat on chromosome 1 had been classified as type L1-PA4 [23], and the LINE repeat on chromosome 17 as type L2.
Repeat Masker computation [16] of intron 9 of the ATXN10 revealed repetitive elements, including 23 Alu and 29 LINE repeat sequences, representing 32% of the total intron length.
The timing of these gene duplications was correlated with the timing of LINE repeat integrations at this locus, possibly suggesting a cause-effect relationship.
These two mouse V1R loci also exhibit a similar high density of LINE repeat content that appears to have predominantly integrated just before and since the mouse-rat split.
Moreover, the V1Ra/V1Rb duplications in both species appear to have occurred over a very short period of evolution just following mouse-rat speciation, probably driven in part by a wave of LINE repeat integration within the locus [ 13].
For the deletion in patient 1, the distal breakpoint is located within a long interspersed nuclear element (LINE) repeat (L1/L1PA5) while the proximal breakpoint lies in a MER1-type repeat (MER58A).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com