Mutations that diminish expression of Kell surface protein and lead to the Kmod RBC phenotype

Transfusion

Volumn 43, Issue 8, 2003, Pages 1121-1125

  Lee, Soohee ^a   Russo, David C W ^b   Reid, Marion E ^b   Redman, Colvin M ^b  

^a NEW YORK BLOOD CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD GROUP ANTIGEN; KELL PROTEIN; KU ANTIBODY; KU ANTIGEN; MUTANT PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD GROUP KELL SYSTEM; CELL LINE; CELL STRAIN 293T; CELL SURFACE; CELL TRANSPORT; ERYTHROCYTE; EXON; GENE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRACELLULAR TRANSPORT; INTRON; KEL GENE; PHENOTYPE; POINT MUTATION; PROTEIN CONFORMATION; PROTEIN CONTENT; PROTEIN TRANSPORT;

AMINO ACID SUBSTITUTION; ANTIGENS, SURFACE; BIOLOGICAL TRANSPORT; BLOOD PROTEINS; CELL LINE; CELL MEMBRANE; ERYTHROCYTES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; PHENOTYPE; POINT MUTATION; TRANSFECTION;

EID: 0042931293     PISSN: 00411132     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1537-2995.2003.00472.x     Document Type: Article

References (15)

1. Marsh WL, Redman CM. Recent developments in the Kell blood group system. Transfus Med Rev 1987;1:4-20.
2. Marsh WL, Redman CM. The Kell blood group system: a review. Transfusion 1990;30:158-67.
3. Lee S, Russo DC, Reiner AP, et al. Molecular defects underlying the Kell null phenotype. J Biol Chem 2001;276: 27281-9.
4. Yu LC, Twu YC, Chang CY, Lin M. Molecular basis of the Kell-null phenotype: a mutation at the splice site of human KEL gene abolishes the expression of Kell blood group antigens. J Biol Chem 2001;276:10247-52.
5. Koda Y, Soejima M, Tsuneoka M, et al. Heterozygosity for two novel null alleles of the KEL gene causes the Kell-null phenotype in a Japanese woman. Br J Haematol 2002; 117:220-5.
6. Marsh WL, Jensen L, Oyen R, et al. Anti-K13 and the K:-13 phenotype: a blood-group variant related to the Kell system. Vox Sang 1974;26:34-40.
7. Allen FH Jr, Krabbe SMR, Corcoran PA. A new phenotype (McLeod) in the Kell blood group system. Vox Sang 1961;6:555-60.
8. Yazdanbakhsh K, Lee S, Yu Q, Reid ME. Identification of a defect in the intracellular trafficking of a Kell blood group variant. Blood 1999;94:310-8.
9. Vengelen-Tyler V, Gonzalez B, Garratty G, et al. Acquired loss of red cell Kell antigens. Br J Haematol 1987;65:231-4.
10. Williamson LM, Poole J, Redman C, et al. Transient loss of proteins carrying Kell and Lutheran red cell antigens during consecutive relapses of autoimmune thrombocytopenia. Br J Haematol 1994;87:805-12.
11. Ho M, Chelly J, Carter N, et al. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 1994;77:869-80.
12. Danek A, Rubio JP, Rampoldi L, et al. McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 2001;50:755-64.
13. Russo DC, Lee S, Reid ME, Redman CM. Point mutations causing the McLeod phenotype. Transfusion 2002;42:287-93.
14. Carbonnet F, Hattab C, Collec E, et al. Immunochemical analysis of the Kx protein from human red cells of different Kell phenotypes using antibodies raised against synthetic peptides. Br J Haematol 1997;96:857-63.
15. Lee S. Molecular basis of Kell blood group phenotypes. Vox Sang 1997;73:1-11.