Lack of the nucleoside transporter ENT1 results in the Augustine-null blood type and ectopic mineralization.

Autor:	Daniels G; International Blood Group Reference Laboratory, National Health Service Blood and Transplant, Bristol, United Kingdom;, Ballif BA; Department of Biology, University of Vermont, Burlington, VT;, Helias V; Institut National de la Transfusion Sanguine, Paris, France;, Saison C; Institut National de la Transfusion Sanguine, Paris, France;, Grimsley S; International Blood Group Reference Laboratory, National Health Service Blood and Transplant, Bristol, United Kingdom;, Mannessier L; Centre Régional de Transfusion Sanguine de Lille, Lille, France;, Hustinx H; Blood Transfusion Service, Swiss Red Cross, Berne, Switzerland;, Lee E; Red Cell Immunohaematology Laboratory of Colindale, London, United Kingdom; and., Cartron JP; Institut National de la Transfusion Sanguine, Paris, France;, Peyrard T; Institut National de la Transfusion Sanguine, Département Centre National de Référence pour les Groupes Sanguins, Paris, France., Arnaud L; Institut National de la Transfusion Sanguine, Paris, France;
Jazyk:	angličtina
Zdroj:	Blood [Blood] 2015 Jun 04; Vol. 125 (23), pp. 3651-4. Date of Electronic Publication: 2015 Apr 20.
DOI:	10.1182/blood-2015-03-631598
Abstrakt:	The Augustine-negative alias At(a-) blood type, which seems to be restricted to people of African ancestry, was identified half a century ago but remains one of the last blood types with no known genetic basis. Here we report that a nonsynonymous single nucleotide polymorphism in SLC29A1 (rs45458701) is responsible for the At(a-) blood type. The resulting p.Glu391Lys variation in the last extracellular loop of the equilibrative nucleoside transporter 1 (ENT1; also called SLC29a1) is known not to alter its ability to transport nucleosides and nucleoside analog drugs. Furthermore, we identified 3 individuals of European ancestry who are homozygous for a null mutation in SLC29A1 (c.589+1G>C) and thus have the Augustine-null blood type. These individuals lacking ENT1 exhibit periarticular and ectopic mineralization, which confirms an important role for ENT1/SLC29A1 in human bone homeostasis as recently suggested by the skeletal phenotype of aging Slc29a1(-/-) mice. Our results establish Augustine as a new blood group system and place SLC29A1 as a new candidate gene for idiopathic disorders characterized with ectopic calcification/mineralization. (© 2015 by The American Society of Hematology.)
Databáze:	MEDLINE
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