Research Article

Resistance to malaria through structural variation of red blood cell invasion receptors

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Science  16 Jun 2017:
Vol. 356, Issue 6343, eaam6393
DOI: 10.1126/science.aam6393

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Pathogens select for genomic variants

Large-scale deletions and duplications of genes, referred to as structural variants (SVs), are common within the human genome and have been linked to disease. Examining a genomic region that appears to confer a selective benefit, Leffler et al. used fine mapping to identify a specific SV that reduces the risk of severe malaria by an estimated 40% (see the Perspective by Winzeler). Data from African individuals revealed that populations harbor different SVs in this region. Furthermore, by dissecting a highly complex genomic region, the authors identified the likely causal element. This element encodes hybrid genes that affect glycophorin proteins, which are used by the malarial parasite in infection and are associated with resistance to severe disease.

Science, this issue p. eaam6393; see also p. 1122

  • For information about the Malaria Genomic Epidemiology Network (MalariaGEN) see www.malariagen.net.

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