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Lack of the nucleoside transporter ENT1 results in the Augustine-null blood type
and ectopic mineralization
#MMPMID25896650
Daniels G
; Ballif BA
; Helias V
; Saison C
; Grimsley S
; Mannessier L
; Hustinx H
; Lee E
; Cartron JP
; Peyrard T
; Arnaud L
Blood
2015[Jun]; 125
(23
): 3651-4
PMID25896650
show ga
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.
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