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The genetic basis and evolution of red blood cell sickling in deer

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Title: The genetic basis and evolution of red blood cell sickling in deer
Authors: Esin, A
Bergendahl, LT
Savolainen, V
Marsh, JA
Warnecke, T
Item Type: Journal Article
Abstract: Crescent-shaped red blood cells, the hallmark of sickle-cell disease, present a striking departure from the biconcave disc shape normally found in mammals. Characterized by increased mechanical fragility, sickled cells promote haemolytic anaemia and vaso-occlusions and contribute directly to disease in humans. Remarkably, a similar sickle-shaped morphology has been observed in erythrocytes from several deer species, without obvious pathological consequences. The genetic basis of erythrocyte sickling in deer, however, remains unknown. Here, we determine the sequences of human β-globin orthologues in 15 deer species and use protein structural modelling to identify a sickling mechanism distinct from the human disease, coordinated by a derived valine (E22V) that is unique to sickling deer. Evidence for long-term maintenance of a trans-species sickling/non-sickling polymorphism suggests that sickling in deer is adaptive. Our results have implications for understanding the ecological regimes and molecular architectures that have promoted convergent evolution of sickling erythrocytes across vertebrates.
Issue Date: 18-Dec-2017
Date of Acceptance: 20-Nov-2017
URI: http://hdl.handle.net/10044/1/53965
DOI: https://dx.doi.org/10.1038/s41559-017-0420-3
ISSN: 2397-334X
Publisher: Nature Publishing Group
Start Page: 367
End Page: 376
Journal / Book Title: Nature Ecology and Evolution
Volume: 2
Copyright Statement: Copyright © 2017, Springer Nature
Sponsor/Funder: The Leverhulme Trust
Medical Research Council
Funder's Grant Number: RF-2016-373/2
MC_A658_5TY40
Publication Status: Published
Appears in Collections:Clinical Sciences
Molecular Sciences
Faculty of Medicine
Faculty of Natural Sciences



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