An Sp1 binding site mutation of the PROS1 promoter in a patient with protein S deficiency [1]

British Journal of Haematology

Volumn 138, Issue 5, 2007, Pages 663-665

  Sanda, Naomi ^a   Fujimori, Yuta ^a   Kashiwagi, Takahiro ^a   Takagi, Akira ^a,b   Murate, Takashi ^a,b   Mizutani, Emi ^a,c   Matsushita, Tadashi ^a   Naoe, Tomoki ^a   Kojima, Tetsuhito ^a,b  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY   (Japan)

^c OGAKI MUNICIPAL HOSPITAL   (Japan)

Author keywords

Electrophoretic mobility shift assay; Luciferase assay; PROS1 promoter; Protein S deficiency; Sp1

Indexed keywords

HEPARIN; PREGNANCY SPECIFIC BETA1 GLYCOPROTEIN; PROTEIN S; WARFARIN;

BINDING SITE; GEL MOBILITY SHIFT ASSAY; HUMAN; LETTER; LOW DRUG DOSE; PORTAL VEIN THROMBOSIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEFICIENCY; PROTEIN FUNCTION;

ADULT; BINDING SITES; HUMANS; MALE; PROMOTER REGIONS (GENETICS); PROTEIN S; PROTEIN S DEFICIENCY; SP1 TRANSCRIPTION FACTOR;

EID: 34547632144     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2007.06668.x     Document Type: Letter

References (10)

1. Dahlbäck, B. (1991) Protein S and C4b-binding protein: components involved in the regulation of the protein C anticoagulant system. Thrombosis and Haemostasis, 66, 49 61.
2. Dynan, W.S. (1986) Promoters for housekeeping genes. Trends in Genetics, 2, 196 197.
3. Heeb, M.J., Mesters, R.M., Tans, G., Rosing, J. Griffen, J.H. (1993) Binding of protein S to factor Va associated with inhibition of prothrombinase that is independent of activated protein C. The Journal of Biological Chemistry, 268, 2872 2877.
4. Heeb, M.J., Rosing, J., Bakker, H.M., Fernandez, J.A., Tans, G. Griffin, J.H. (1994) Protein S binds to and inhibits factor Xa. Proceedings of the National Academy of Sciences of the United States of America, 91, 2728 2732.
5. Kokame, K., Kato, H. Miyata, T. (2001) Identification of ERSE-II, a new cis-acting element responsible for the ATF6-dependent mammalian unfolded protein response. The Journal of Biological Chemistry, 276, 9199 9205.
6. Okada, H., Takagi, A., Murate, T., Adachi, T., Yamamoto, K., Matsushita, T., Takamatsu, J., Sugita, K., Sugimoto, M., Yoshioka, A., Yamazaki, T., Saito, H. Kojima, T. (2004) Identification of protein S alpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency. British Journal of Haematology, 126, 219 225.
7. Pugh, B.F. Tjian, R. (1991) Transcription from a TATA-less promoter requires a multisubunit TFIID complex. Genes and Development, 5, 1935 1945.
8. Tatewaki, H., Tsuda, H., Kanaji, T., Yokoyama, K. Hamasaki, N. (2003) Characterization of the human protein S gene promoter: a possible role of transcription factors Sp1 and HNF3 in liver. Thrombosis and Haemostasis, 90, 1029 1039.
9. de Wolf, C.J., Cupers, R.M., Bertina, R.M. Vos, H.L. (2005) Initiation of protein S mRNA synthesis in human liver and various cell lines. Journal of Thrombosis and Haemostasis, 3, 410 412.
10. de Wolf, C.J., Cupers, R.M., Bertina, R.M. Vos, H.L. (2006) The constitutive expression of anticoagulant protein S is regulated through multiple binding sites for Sp1 and Sp3 transcription factors in the protein S gene promoter. The Journal of Biological Chemistry, 281, 17635 17643.