Type-I protein-C deficiency caused by disruption of a hepatocyte nuclear factor (HNF)-6/HNF-1 binding site in the human protein-C gene promoter

Trends in Cardiovascular Medicine

Volumn 9, Issue 3-4, 1999, Pages 82-85

  Spek, Arnold ^a   Reitsma, Pieter ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR; NUCLEAR FACTOR I; PROTEIN C; TRANSCRIPTION FACTOR;

BINDING SITE; DNA SEQUENCE; ENZYME DEFICIENCY; GENE DISRUPTION; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; REVIEW; TISSUE SPECIFICITY; TRANSACTIVATION; TRANSCRIPTION REGULATION;

DNA; DNA-BINDING PROTEINS; GENE EXPRESSION; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HEPATOCYTE NUCLEAR FACTOR 6; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; NUCLEAR PROTEINS; PROMOTER REGIONS (GENETICS); PROTEIN C; PROTEIN C DEFICIENCY; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 0033117182     PISSN: 10501738     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1050-1738(99)00010-9     Document Type: Review

References (23)

1. Arbini A.A., Pollak E.S., Bayleran J.K., High K.A., Bauer K.A. Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter. Blood. 89:1997;176-182.
2. Baumhueter S., Mendel D.B., Conley P.B., Kuo C.J., Turk C., Graves M.K., Edwards C.A., Courtois G., Crabtree G.R. HNF-1 shares three sequence motifs with the POU domain proteins and is identical to LF-B1 and APF. Genes Dev. 4:1990;372-379.
3. Berg L.-P., Scopes D.A., Alhaq A., Kakkar V.V., Cooper D.N. Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia. Hum Mol Genet. 3:1994;2147-2152.
4. Berg L.-P., Scopes D.A., Greengard J.S., Griffin J.H., Cooper D.N. The -1511 mutation in the protein C gene promoter disrupts the binding site for the transactivational activator, hepatocyte nuclear factor 1 (HNF-1). Thromb Haemost. 73:1995;1253.
5. Crossley M., Brownlee G.G. Disruption of a C/EBP binding site in the factor IX promoter is associated with heamophilia B. Nature. 345:1990;444-446.
6. Crossley M., Ludwig M., Stowell K.M., De Vos P., Olek K., Brownlee G.G. Recovery from hemophilia B Leyden. an androgen-responsive element in the factor IX promoter Science. 257:1992;377-379.
7. Frain M., Swart G., Monaci P., Nicosia A., Stampfli S., Frank R., Cortese R. The liver-specific transcription factor LF-B1 contains a highly diverged homeobox DNA binding domain. Cell. 59:1989;145-157.
8. Koster T., Rosendaal F.R., Van der Meer F.J.M., Colly L.P., Trienekens P.H., Poort S.R., Reitsma P.H., Vandenbroucke J.P. Protein C deficiency in a controlled series of unselected outpatients. an infrequent but clear risk factor for venous thrombosis (Leiden thrombophilia study) Blood. 84:1995;2756-2761.
9. Lannoy V.J., Bürglin T.R., Rousseau G.G., Lemaigre F.P. Isoforms of hepatocyte nuclear factor-6 differ in DNA-binding properties, contain a bifunctional homeodomain, and define the new ONECUT class of homeodomain proteins. J Biol Chem. 273:1998;13,552-13,562.
10. Lemaigre F.P., Durviaux S.M., Truong O., Lannoy V.J., Hsuan J.J., Rousseau G.G. Hepatocyte nuclear factor 6, a transcription factor that contains a novel type of homeodomain and a single cut domain. Proc Natl Acad Sci USA. 93:1996;9460-9464.
11. Marlar R.A., Montgomery R.R., Broekmans A.W. Diagnosis and treatment of homozygous protein C deficiency. J Pediatr. 114:1989;528-534.
12. Miao C.H., Ho W.T., Greenberg D.L., Davie E.W. Transcriptional regulation of the gene coding for human protein C. J Biol Chem. 271:1996;9587-9594.
13. Nicosia A., Monaci P., Tomei L., De Francesco R., Nuzzo M., Stunnenberg H., Cortese R. A myosin-like dimerization helix and an extra-large homeodomain are essential elements of the tripartite DNA binding structure of LFB1. Cell. 61:1990;1225-1236.
14. Picketts D.J., Lillicrap D.P., Mueller C.R. Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation. Nature Genet. 3:1993;175-179.
15. Pollak E.S., Carew J.A., Arbini A.A., High K.A., Bauer K.A. Severe factor VII deficiency due to mutations disrupting HNF-4 and Sp 1 binding sites in the factor VII promoter. Blood. 88:1996;658.
16. Reitsma P.H., Bernardi F., Doig R.G.et al. Protein C deficiency. a database of mutations, 1995 update Thromb Haemost. 73:1995;876-889.
17. Seligsohn U., Berger A., Abend M., Rubin L., Attias D., Zivilin A., Rapaport S.I. Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn. N Engl J Med. 310:1984;559-562.
18. Spek C.A., Koster T., Rosendaal F.R., Bertina R.M., Reitsma P.H. Genotypic variation in the promoter region of the protein C gene is associated with plasma protein C levels and thrombotic risk. Arterioscler Thromb. 15:1995;214-218. a.
19. Spek C.A., Greengard J.S., Griffin J.H., Bertina R.M., Reitsma P.H. Two mutations in the promoter region of the human protein C gene both cause type I protein C deficiency by disruption of two HNF-3 binding sites. J Biol Chem. 270:1995;24,216-24,221. b.
20. Spek C.A., Lannoy V.J., Lemaigre F.P., Rousseau G.G., Bertina R.M., Reitsma P.H. Type I protein C deficiency caused by disruption of a hepatocyte nuclear factor (HNF)-6/HNF-1 binding site in the human protein C gene promoter. J Biol Chem. 273:1998;10,168-10,173. a.
21. Spek C.A., Bertina R.M., Reitsma P.H. Identification of evolutionary identical sequences in the protein C gene promoter. JME. 47:1998;663-669. b.
22. Tsay W., Lee Y.-M., Lee S.-C., Shen M.-C., Chen P.-J. Characterization of human protein C gene promoter. insights from natural human mutants DNA Cell Biol. 15:1996;907-919.
23. Yamagata K., Oda N., Kaisaki P.J.et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature. 384:1996;455-458.