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Six universal stress proteins (USP) are encoded on this locus and all six USPs, together with a heat shock protein, showed increased abundance in the later isolates.
Focusing on this locus, we identify a major dimorphism comprising large mutually exclusive deletions in the intergenic sequence, one of the alleles being at high frequency in The Gambia and Senegal but uncommon elsewhere in West Africa.
Thus, balancing selection acting on this locus seems a more plausible hypothesis.
One of the new candidate gene on this locus is PDCD6 which has been shown to contribute towards tumor development and expansion [27].
Because rs12979860 is the single statistically significant IL28B predictor of SVR as shown previously, we focused on this locus in the groups of either high or low baseline viral load.
Although the reason for selection on this locus remains elusive, this is the first demonstration of a widespread parallel selection event acting on standing genetic variation in humans, and highlights the utility of between population EHH statistics.
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More recently, the case for miR-15a/16-1 deletion having a causative role in CLL was strengthened with the generation of a CLL mouse model based on knockout of this locus [ 29].
For example, the large effect of AGPAT6 on FY could help to more precisely map the smaller effects of this locus on PY.
We next explored whether the effect of this locus on AD pathology might mediate its association with cognition (Table 7).
In fact, a recent fine-mapping effort in this region does suggest that S69A is more likely, than the HTRA1 promoter variant, to be causally responsible for the impact of this locus on ARM [54].
As such investigators should test both rs3751812 and rs9939609 in their obese cohorts around the world in order to thoroughly assess the influence of this locus on the phenotype globally.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com