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The Malaria-Protect...
The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels
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- Algady, Walid (author)
- Univ Leicester, Dept Genet & Genome Biol, Leicester LE1 7RH, Leics, England
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- Louzada, Sandra (author)
- Wellcome Sanger Inst, Cambridge CB10 1SA, England
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- Carpenter, Danielle (author)
- Univ Leicester, Dept Genet & Genome Biol, Leicester LE1 7RH, Leics, England
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- Brajer, Paulina (author)
- Univ Leicester, Dept Genet & Genome Biol, Leicester LE1 7RH, Leics, England
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- Farnert, Anna (author)
- Karolinska Institutet
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- Rooth, Ingegerd (author)
- Natl Inst Med Res, Nyamisati Malaria Res, Dar Es Salaam, Tanzania
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- Ngasala, Billy (author)
- Uppsala universitet,Internationell barnhälsa och nutrition,Muhimbili Univ Hlth & Allied Sci, Dept Parasitol & Med Entomol, Dar Es Salaam, Tanzania
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- Yang, Fengtang (author)
- Wellcome Sanger Inst, Cambridge CB10 1SA, England
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- Shaw, Marie-Anne (author)
- Univ Leeds, Leeds Inst Med Res St Jamess, Leeds LS9 7TF, W Yorkshire, England
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- Hollox, Edward J. (author)
- Univ Leicester, Dept Genet & Genome Biol, Leicester LE1 7RH, Leics, England
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(creator_code:org_t)
- Elsevier BV, 2018
- 2018
- English.
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 103:5, s. 769-776
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Abstract
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- 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. By developing a simple, specific, PCR-based assay for DUP4, we show that the DUP4 variant reaches a frequency of 13% in the population of a malaria-endemic village in southeastern Tanzania. We genotype a substantial proportion of that village and demonstrate an association of DUP4 genotype with hemoglobin levels, a phenotype related to malaria, using a family-based association test. Taken together, we show that DUP4 is a complex structural variant that may be susceptible to somatic variation and show that DUP4 is associated with a malarial-related phenotype in a longitudinally followed population.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Algady, Walid
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Louzada, Sandra
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Carpenter, Danie ...
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Brajer, Paulina
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Farnert, Anna
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Rooth, Ingegerd
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show more...
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Ngasala, Billy
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Yang, Fengtang
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Shaw, Marie-Anne
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Hollox, Edward J ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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American Journal ...
- By the university
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Uppsala University
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Karolinska Institutet