bcrp - publications

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1. Nat Genet. 2012 Jan 15;44(2):174-7. doi: 10.1038/ng.1070.

Null alleles of ABCG2 encoding the breast cancer resistance protein define the
new blood group system Junior.

Saison C, Helias V, Ballif BA, Peyrard T, Puy H, Miyazaki T, Perrot S,
Vayssier-Taussat M, Waldner M, Le Pennec PY, Cartron JP, Arnaud L.

National Institute of Blood Transfusion (INTS), Paris, France.

The breast cancer resistance protein, also known as ABCG2, is one of the most
highly studied ATP-binding cassette (ABC) transporters because of its ability to
confer multidrug resistance. The lack of information on the physiological role of
ABCG2 in humans severely limits cancer chemotherapeutic approaches targeting this
transporter. We report here that ABCG2 comprises the molecular basis of a new
blood group system (Junior, Jr) and that individuals of the Jr(a-) blood type
have inherited two null alleles of ABCG2. We identified five frameshift and three
nonsense mutations in ABCG2. We also show that the prevalence of the Jr(a-) blood
type in the Japanese and European Gypsy populations is related to the p.Gln126*
and p.Arg236* protein alterations, respectively. The identification of ABCG2(-/-)
(Jr(a-)) individuals who appear phenotypically normal is an essential step toward
targeting ABCG2 in cancer and also in understanding the physiological and
pharmacological roles of this promiscuous transporter in humans.

PMID: 22246505 [PubMed - in process]