Null Alleles

14,000,000 Leading Edge Experts on the ideXlab platform

Scan Science and Technology

Contact Leading Edge Experts & Companies

Scan Science and Technology

Contact Leading Edge Experts & Companies

The Experts below are selected from a list of 15621 Experts worldwide ranked by ideXlab platform

Cock Van Oosterhout - One of the best experts on this subject based on the ideXlab platform.

William F. Hutchinson - One of the best experts on this subject based on the ideXlab platform.

Peter Shipley - One of the best experts on this subject based on the ideXlab platform.

Carole Saison - One of the best experts on this subject based on the ideXlab platform.

  • Null Alleles of abcg2 encoding the breast cancer resistance protein define the new blood group system junior
    Nature Genetics, 2012
    Co-Authors: Carole Saison, Virginie Helias, Bryan A Ballif, Thierry Peyrard, Herve Puy, Toru Miyazaki, Sebastien Perrot, Muriel Vayssiertaussat, Mauro Waldner, Pierreyves Le Pennec
    Abstract:

    Lionel Arnaud and colleagues identify Null Alleles of ABCG2 as the genetic basis of the Junior blood group system.

  • Null Alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior
    Nature Genetics, 2012
    Co-Authors: Carole Saison, Virginie Helias, Bryan A Ballif, Thierry Peyrard, Herve Puy, Sebastien Perrot, Muriel Taussat, Pierre Yves Le Pennec, Jean Pierre Cartron, Lionel Arnaud
    Abstract:

    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.

Akihiro Kijima - One of the best experts on this subject based on the ideXlab platform.