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

Journal of Biological Chemistry

Volumn 276, Issue 13, 2001, Pages 10247-10252

  Yu, Lung Chih ^a   Twu, Yuh Ching ^a   Chang, Ching Yi ^a   Lin, Marie ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGENS; BLOOD; CELLS; PROTEINS;

PHENOTYPES;

GENES;

GLYCOPROTEIN; AMINO ACID; ANTIGEN; EPITOPE; KELL ACTIVE PROTEINS; KELL-ACTIVE PROTEINS; MEMBRANE ANTIGEN; MESSENGER RNA; PLASMA PROTEIN;

ANTIGEN EXPRESSION; ARTICLE; BLOOD GROUP KELL SYSTEM; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; EXON; GENE MUTATION; GENE SEQUENCE; HOMOZYGOTE; HUMAN; INTRON; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ALLELE; AMINO ACID SEQUENCE; BIOLOGICAL MODEL; CHEMISTRY; DNA SEQUENCE; GENETIC POLYMORPHISM; GENETICS; IMMUNOLOGY; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING; SEQUENCE HOMOLOGY;

ALLELES; AMINO ACID SEQUENCE; AMINO ACIDS; ANTIGENS; ANTIGENS, SURFACE; BASE SEQUENCE; BLOOD PROTEINS; CONSERVED SEQUENCE; EPITOPES; EXONS; HUMANS; INTRONS; KELL BLOOD-GROUP SYSTEM; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0035971066     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M009879200     Document Type: Article

References (39)

1. Cooms, R. R. A., Mourant, A. E., and Race, R. R. (1946) Lancet 1, 264-266
2. Levine, P., Backer, M., Wigod, M., and Ponder, R. (1949) Nature 109, 464-466
3. Redman, C. M., and Lee, S. (1995) in Blood Cell Biochemistry (Cartron, J.-P., and Rouger, P., eds) pp. 227-242, Plenum Press, New York
4. Daniels, G. (1995) Human Blood Groups, pp. 385-420, Blackwell Science Ltd., Oxford
5. Reid, M. E., and Lomas-Francis, C. (1997) The Blood Group Antigen Facts. Book, pp. 175-209, Academic Press, San Diego, CA
6. Issitt, P. D., and Anstee, D. J. (1998) Applied Blood Group Serology, 4th Ed., pp. 609-653, Montgomery Scientific Publications, Durham, NC
7. Schenkel-Brunner, H. (2000) Human Blood Groups: Chemical and Biochemical Basis of Antigen Specificity, 2nd Ed., pp. 485-503, Springer-Verlag, Wien
8. Wagner, T., Bernaschek, G., and Geissler, K. (2000) N. Eng. J. Med. 343, 72
9. Redman, C. M., Avellino, G., Pfeffer, S. R., Mukherjee, T. K., Nichols, M., Rubinstein, P., and Marsh, W. L. (1986) J. Biol. Chem. 261, 9521-9525
10. Russo, D., Redman, C., and Lee, S. (1998) J. Biol. Chem. 273, 13950-13956
11. Russo, D., Lee, S., and Redman, C. (1999) Biochim. Biophys. Acta 1461, 10-18
12. Lee, S., Zambas, E. D., Marsh, L., and Redman, C. M. (1991) Proc. Natl. Acad. Sci. U. S. A. 88, 6353-6357
13. Lee, S., Zambus, E., Green, E. D., and Redman, C. (1995) Blood 85, 1364-1370; Correction (1998) 87, 4922
14. Lee, S., Wu, X., Reid, M., Zelinski, T., and Redman, C. (1995) Blood 85, 912-916
15. Lee, S., Wu, X., Reid, M., and Redman, C. (1995) Transfusion 35, 822-825
16. Lee, S., Wu, X., Son, S., Naime, D., Reid, M., Okubo, Y., Sistonen, P., and Redman, C. (1996) Transfusion 36, 490-494
17. Lee, S., Naime, D. S., Reid, M. E., and Redman, C. M. (1997) Transfusion 37, 1117-1122
18. Lee, S. (1997) Vox Sang. 73, 1-11
19. Lee, S., Russo, D., and Redman, C. (2000) Transfus. Med. Rev. 14, 93-103
20. Lee, S., Russo, D., and Redman, C. M. (2000) Semin. Hematol. 37, 113-121
21. Lee, S., Lin, M., Mele, A., Cao, Y., Farmar, J., Russo, D., and Redman, C. (1999) Blood 94, 1440-1450
22. Russo, D., Wu, X., Redman, C. M., and Lee, S. (2000) Blood 96, 340-346
23. Redman, C. M., Marsh, W. L., Scarborough, A., Johnson, C. L., Rabin, B. I., and Overbeeke, M. (1988) Br. J. Haematol. 68, 131-136
24. Jaber, A., Loirat, M.-J. Willem, C., Bloy, C., Cartron, J.-P., and Blanchard, D. (1991) Br. J. Haematol. 79, 311-315
25. Chown, B., Lewis, M., and Kaita, K. (1957) Nature 180, 711
26. Krawczak, M., Reiss, J., and Cooper, D. N. (1992) Hum. Genet. 90, 41-54
27. Nakai, K., and Sakamoto, H. (1994) Gene 141, 171-177
28. Robberson, B. L., Cote, G. J., and Berget, S. M. (1990) Mol. Cell. Biol. 10, 84-94
29. Thierfelder, L., Watkins, H., MacRae, C., Lamas, R., McKenna, W., Vosberg, H.-P., Seldman, J. G., and Seidman, C. E. (1994) Cell 77, 701-712
30. Winberg, J.-O., Hammami-Hauasli, N., Nilssen, OØ., Anton-Lamprecht, I., Naylor, S. L., Kerbacher, K., Zimmermann, M., Krajci, P., Gedde-Dahl, T., Jr., and Bruckner-Tuderman, L. (1997) Hum. Mol. Genet. 6, 1125-1135
31. McVey, J. H., Boswell, E. J., Takamiya, O., Tamagnini, G., Valente, V., Fidalgo, T., Layton, M., and Tuddenham, E. G. D. (1998) Blood 92, 920-926
32. Ohno, K., Berngman, J. M., Felice, K. J., Cornblath, D. R., and Engel, A. G. (1999) Am. J. Hum. Genet. 65, 635-644
33. Schwarze, U., Starman, B. J., and Byers, P. H. (1999) Am. J. Hum. Genet. 65, 336-344
34. Harteveld, C. L., Beijer, C., van Delft, P., Zanardini, R., Bernini, L. F., and Giordano, P. C. (2000) Br. J. Haematol. 110, 694-698
35. Wyatt, J., Brennan, S. O., May, S., and George, P. M. (2000) Thromb. Haemostasis 84, 449-452
36. Condino-Neto, A., and Newburger, P. E. (2000) Blood 95, 3548-3554
37. Okubo, M., Horinishi, A., Suzuki, Y., Murase, T., and Hayasaka, K. (2000) Am. J. Med. Genet. 93, 211-214
38. Yazdanbakhsh, K., Lee, S., Yu, Q., and Reid, M. E. (1999) Blood 94, 310-318
39. Uchikawa, M., Onodera, T., Tsuneyama, H., Enomoto, T., Ishijima, A., Yuasa, S., Murata, S., Tadokoro, K., Nakajima, K., and Juji, T. (2000) Vox Sang. 78, O011 (abstr.)