Figure 1: Origin of the human haptoglobin alleles that modify cholesterol levels in the blood. | Nature Genetics

Figure 1: Origin of the human haptoglobin alleles that modify cholesterol levels in the blood.

From: Recurrent mutation at the classical haptoglobin structural polymorphism

Figure 1

Two variants at the HP (haptoglobin) locus independently affect blood cholesterol levels—a structural variant of the HP gene (HP1/HP2) and a SNP in a noncoding region 13 kb downstream of HP (rs2000999). HP2 arose by duplication from the HP1 allele between 0.5 and 7 million years ago (MYA) and became fixed in humans. Modern HP1 alleles have been generated by recurrent mutation of this ancestral HP2 allele.

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