Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: A disease susceptibility polymorphism

Proceedings of the National Academy of Sciences of the United States of America

Volumn 100, Issue 7, 2003, Pages 4066-4071

  Kammerer, Stefan ^a   Burns Hamurot, Lora L ^b   Ma, Yuliang ^b   Hamon, Sara C ^c   Cànaves, Jaume M ^b   Shi, Michael M ^a   Nelson, Matthew R ^a   Sing, Charles F ^c   Cantor, Charles R ^a   Taylor, Susan S ^b   Braun, Andreas ^a  

^a SEQUENOM INC   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Cardiac dysfunction; Health risk factor; Morbidity; Protein kinase A; Single nucleotide polymorphism

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE; DNA; DUAL SPECIFIC A KINASE ANCHORING PROTEIN 2; GENE PRODUCT; ISOLEUCINE; ISOPROTEIN; UNCLASSIFIED DRUG; VALINE; AKAP10 PROTEIN, HUMAN; CARRIER PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; AGING; AKAP2 GENE; ALLELE; ALZHEIMER DISEASE; AMINO ACID ANALYSIS; AMINO ACID SEQUENCE; ARTICLE; CANCER; CARDIOVASCULAR DISEASE; CELLULAR DISTRIBUTION; CORRELATION ANALYSIS; DIABETES MELLITUS; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; ELECTROCARDIOGRAM; ENZYME BINDING; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEART DISEASE; HUMAN; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MORBIDITY; NUCLEOTIDE SEQUENCE; ONSET AGE; PR INTERVAL; PRIORITY JOURNAL; PROGNOSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN VARIANT; SCREENING TEST; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; ADOLESCENT; AMINO ACID SUBSTITUTION; ANIMAL; BINDING SITE; CAUCASIAN; CHROMOSOME MAP; ETHNIC GROUP; ETHNOLOGY; EUROPE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MIDDLE AGED; MOLECULAR GENETICS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; UNITED STATES;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BINDING SITES; CARRIER PROTEINS; CHROMOSOME MAPPING; ETHNIC GROUPS; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; UNITED STATES; VARIATION (GENETICS);

EID: 0037389642     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.2628028100     Document Type: Article

References (45)

1. Holden, A. L. (2002) BioTechniques (Suppl.), 22-24, 26.
2. Risch, N. & Merikangas, K. (1996) Science 273, 1516-1517.
3. Puca, A. A., Daly, M. J., Brewster, S. J., Matise, T. C., Barrett, J., Shea-Drinkwater, M., Kang, S., Joyce, E., Nicoli, J., Benson, E., Kunkel, L. M. & Perls, T. (2001) Proc. Natl. Acad. Sci. USA 98, 10505-10508.
4. Haviland, M. B., Lussier-Cacan, S., Davignon, J. & Sing, C. F. (1995) Am. J. Med. Genet. 58, 315-331.
5. Schachter, F., Faure-Delanef, L., Guenot, F., Rouger, H., Froguel, P., Lesueur-Ginot, L. & Cohen, D. (1994) Nat. Genet. 6, 29-32.
6. Andrew, T., Hart, D. J., Snieder, H., de Lange, M., Spector, T. D. & MacGregor, A. J. (2001) Twin Res. 4, 464-477.
7. Buetow, K. H., Edmonson, M., MacDonald, R., Clifford, R., Yip, P., Kelley, J., Little, D. P., Strausberg, R., Koester, H., Cantor, C. R. & Braun, A. (2001) Proc. Natl. Acad. Sci. USA 98, 581-584.
8. Bansal, A., van den Boom, D., Kammerer, S., Honisch, C., Adam, G., Cantor, C. R., Kleyn, P. & Braun, A. (2002) Proc. Natl. Acad. Sci. USA 99, 16871-16874.
9. Mohlke, K. L., Erdos, M. R., Scott, L. J., Fingerlin, T. E., Jackson, A. U., Silander, K., Hollstein, P., Boehnke, M. & Collins, F. S. (2002) Proc. Natl. Acad. Sci. USA 99, 16928-16933.
10. Abecasis, G. R., Cardon, L. R. & Cookson, W. O. (2000) Am. J. Hum. Genet. 66, 279-292.
11. Schaffer, A. A., Aravind, L., Madden, T. L., Shavirin, S., Spouge, J. L., Wolf, Y. I., Koonin, E. V. & Altschul, S. F. (2001) Nucleic Acids Res. 29, 2994-3005.
12. Henikoff, S. & Henikoff, J. G. (1992) Proc. Natl. Acad. Sci. USA 89, 10915-10919.
13. Huang, L. J., Durick, K., Weiner, J. A., Chun, J. & Taylor, S. S. (1997) Proc. Natl. Acad. Sci. USA 94, 11184-11189.
14. Huang, L. J., Wang, L., Ma, Y., Durick, K., Perkins, G., Deerinck, T. J., Ellisman, M. H. & Taylor, S. S. (1999) J. Cell Biol. 145, 951-959.
15. Sham, P., Bader, J. S., Craig, I., O'Donovan, M. & Owen, M. (2002) Nat. Rev. Genet. 3, 862-871.
16. Nei, M. (1972) Am. Nat. 106, 283-292.
17. Saitou, N. & Nei, M. (1987) Mol. Biol. Evol. 4, 406-425.
18. Wang, L., Sunahara, R. K., Krumins, A., Perkins, G., Crochiere, M. L., Mackey, M., Bell, S., Ellisman, M. H. & Taylor, S. S. (2001) Proc. Natl. Acad. Sci. USA 98, 3220-3225.
19. Edwards, A. S. & Scott, J. D. (2000) Curr. Opin. Cell Biol. 12, 217-221.
20. Stephens, M., Smith, N. J. & Donnelly, P. (2001) Am. J. Hum. Genet. 68, 978-989.
21. Carr, D. W., Hausken, Z. E., Fraser, I. D., Stofko-Hahn, R. E. & Scott, J. D. (1992) J. Biol. Chem. 267, 13376-13382.
22. Glantz, S. B., Li, Y. & Rubin, C. S. (1993) J. Biol. Chem. 268, 12796-12804.
23. Miki, K. & Eddy, E. M. (1999) J. Biol. Chem. 274, 29057-29062.
24. Angelo, R. G. & Rubin, C. S. (2000) J. Biol. Chem. 275, 4351-4362.
25. De Vries, L., Zheng, B., Fischer, T., Elenko, E. & Farquhar, M. G. (2000) Annu. Rev. Pharmacol. Toxicol. 40, 235-271.
26. Harris, B. Z. & Lim, W. A. (2001) J. Cell Sci. 114, 3219-3231.
27. Huang, L. J., Durick, K., Weiner, J. A., Chun, J. & Taylor, S. S. (1997). J. Biol. Chem. 272, 8057-8064.
28. Chen, Q., Lin, R. Y. & Rubin, C. S. (1997) J. Biol. Chem. 272, 15247-15257.
29. Burns-Hamuro, L. L., Ma, Y., Kammerer, S., Reineke, U., Self, C., Cook, C., Olson, G. L., Cantor, C. R., Braun, A. & Taylor, S. S. (2003) Proc. Natl. Acad. Sci. USA 100, 4072-4077.
30. Skalhegg, B. S. & Tasken, K. (2000) Front. Biosci. 5, D678-D693.
31. Cho Chung, Y. S., Pepe, S., Clair, T., Budillon, A. & Nesterova, M. (1995) Crit. Rev. Oncol. Hematol. 21, 33-61.
32. Casey, M., Vaughan, C. J., He, J., Hatcher, C. J., Winter, J. M., Weremowicz, S., Montgomery, K., Kucherlapati, R., Morton, C. C. & Basson, C. T. (2000) J. Clin. Invest. 106, R31-R38.
33. Kirschner, L. S., Carney, J. A., Pack, S. D., Taymans, S. E., Giatzakis, C., Cho, Y. S., Cho-Chung, Y. S. & Stratakis, C. A. (2000) Nat. Genet. 26, 89-92.
34. Torgersen, K. M., Vang, T., Abrahamsen, H., Yaqub, S. & Tasken, K. (2002) Cell Signaling 14, 1-9.
35. Amieux, P. S., Howe, D. G., Knickerbocker, H., Lee, D. C., Su, T., Laslo, G. S., Idzerda, R. L. & McKnight, G. S. (2002) J. Biol. Chem. 277, 27294-27304.
36. Amieux, P. S. & McKnight, G. S. (2002) Ann. N.Y. Acad. Sci. 968, 75-95.
37. Xiao, R. P., Cheng, H., Zhou, Y. Y., Kuschel, M. & Lakatta, E. G. (1999) Circ. Res. 85, 1092-1100.
38. Fink, M. A., Zakhary, D. R., Mackey, J. A., Desnoyer, R. W., Apperson-Hansen, C., Damron, D. S. & Bond, M. (2001) Circ. Res. 88, 291-297.
39. Dodge, K. L., Khouangsathiene, S., Kapiloff, M. S., Mouton, R., Hill, E. V., Houslay, M. D., Langeberg, L. K. & Scott, J. D. (2001) EMBO J. 20, 1921-1930.
40. Fraser, I. D., Tavalin, S. J., Lester, L. B., Langeberg, L. K., Westphal, A. M., Dean, R. A., Marrion, N. V. & Scott, J. D. (1998) EMBO J. 17, 2261-2272.
41. Westphal, R. S., Tavalin, S. J., Lin, J. W., Alto, N. M., Fraser, I. D., Langeberg, L. K., Sheng, M. & Scott, J. D. (1999) Science 285, 93-96.
42. Marx, S. O., Kurokawa, J., Reiken, S., Motoike, H., D'Armiento, J., Marks, A. R. & Kass, R. S. (2002) Sceince 295, 496-499.
43. Antos, C. L., Frey, N., Marx, S. O., Reiken, S., Gaburjakova, M., Richardson, J. A., Marks, A. R. & Olsen, E. N. (2001) Circ. Res. 89, 997-1004.
44. Robinson, M. L., Wallert, M. A., Reinitz, C. A. & Shabb, J. B. (1996) Arch. Biochem. Biophys. 330, 181-187.
45. Reinitz, C. A., Bianco, R. A. & Shabb, J. B. (1997) Arch. Biochem. Biophys. 348, 391-402.