| Autor: |
Daniels, Geoff, Ballif, Bryan A., Helias, Virginie, Saison, Carole, Grimsley, Shane, Mannessier, Lucienne, Hustinx, Hein, Lee, Edmond, Cartron, Jean-Pierre, Peyrard, Thierry, Arnaud, Lionel |
| Zdroj: |
Blood; June 2015, Vol. 125 Issue: 23 p3651-3654, 4p |
| 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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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