The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels

Glycophorin A and glycophorin B are red blood cell surface proteins and are both receptors for the parasite Plasmodium falciparum, which is the principal cause of malaria in sub-Saharan Africa. DUP4 is a complex structural genomic variant that carries extra copies of a glycophorin A-glycophorin B fusion gene and has a dramatic effect on malaria risk by reducing the risk of severe malaria by up to 40%. Using fiber-FISH and Illumina sequencing, we validate the structural arrangement of the glycophorin locus in the DUP4 variant and reveal somatic variation in copy number of the glycophorin B-glycophorin A fusion gene.

Source: The American Journal of Human Genetics - November 1, 2018 Category: Genetics & Stem Cells Authors: Walid Algady, Sandra Louzada, Danielle Carpenter, Paulina Brajer, Anna F ärnert, Ingegerd Rooth, Billy Ngasala, Fengtang Yang, Marie-Anne Shaw, Edward J. Hollox Tags: Article Source Type: research