title: ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis.
abstract: The human ATP-binding cassette (ABC) transporter ABCB6 has been described as a mitochondrial porphyrin transporter essential for heme biosynthesis, but it is also suspected to contribute to anticancer drug resistance, as do other ABC transporters located at the plasma membrane. We identified ABCB6 as the genetic basis of the Lan blood group antigen expressed on red blood cells but also at the plasma membrane of hepatocellular carcinoma (HCC) cells, and we established that ABCB6 encodes a new blood group system (Langereis, Lan). Targeted sequencing of ABCB6 in 12 unrelated individuals of the Lan(-) blood type identified 10 different ABCB6 null mutations. This is the first report of deficient alleles of this human ABC transporter gene. Of note, Lan(-) (ABCB6(-/-)) individuals do not suffer any clinical consequences, although their deficiency in ABCB6 may place them at risk when determining drug dosage.
authors.affiliation: National Institute of Blood Transfusion (INTS), Paris, France.
authors.forename: Virginie
authors.initials: V
authors.lastname: Helias
authors.forename: Carole
authors.initials: C
authors.lastname: Saison
authors.forename: Bryan A
authors.initials: BA
authors.lastname: Ballif
authors.forename: Thierry
authors.initials: T
authors.lastname: Peyrard
authors.forename: Junko
authors.initials: J
authors.lastname: Takahashi
authors.forename: Hideo
authors.initials: H
authors.lastname: Takahashi
authors.forename: Mitsunobu
authors.initials: M
authors.lastname: Tanaka
authors.forename: Jean-Charles
authors.initials: JC
authors.lastname: Deybach
authors.forename: Hervé
authors.initials: H
authors.lastname: Puy
authors.forename: Maude
authors.initials: M
authors.lastname: Le Gall
authors.forename: Camille
authors.initials: C
authors.lastname: Sureau
authors.forename: Bach-Nga
authors.initials: BN
authors.lastname: Pham
authors.forename: Pierre-Yves
authors.initials: PY
authors.lastname: Le Pennec
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Tani
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Cartron
authors.forename: Lionel
authors.initials: L
authors.lastname: Arnaud
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D001483:Base Sequence; D001789:Blood Group Antigens / Q000235:genetics*; D045744:Cell Line, Tumor; D004912:Erythrocytes; D004920:Erythropoiesis / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: C107991:ABCB6 protein, human; D018528:ATP-Binding Cassette Transporters; D001789:Blood Group Antigens