Article
Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels.
Nature genetics - 1 Apr 2016
Boettger Linda M, Salem Rany M, Handsaker Robert E, Peloso Gina M, Kathiresan Sekar, Hirschhorn Joel N, McCarroll Steven A
Abstract excerpt
One of the first protein polymorphisms identified in humans involves the abundant blood protein haptoglobin. Two exons of the HP gene (encoding haptoglobin) exhibit copy number variation that affects HP protein structure and multimerization. The evolutionary origins and medical relevance of this polymorphism have been uncertain. Here we show that this variation has likely arisen from many recurring deletions,...
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