An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden

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

Volumn 106, Issue 19, 2009, Pages 7921-7926

  Kurachi, Sumiko ^a   Huo, Jeffrey S ^b   Ameri, Afshin ^b,c   Zhang, Kezhong ^b,d   Yoshizawa, Akiyasu C ^a   Kurachi, Kotoku ^a,b  

^a NATIONAL INSTITUTE OF ADVANCED INDUSTRIAL SCIENCE AND TECHNOLOGY AIST   (Japan)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c MEDICAL COLLEGE OF GEORGIA   (United States)

^d WAYNE STATE UNIVERSITY   (United States)

Author keywords

Factor IX; Gene switch; Growth hormone; Puberty; Sex hormone

Indexed keywords

BLOOD CLOTTING FACTOR 11; GROWTH HORMONE; LIVER PROTEIN; NUCLEAR PROTEIN; PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BLEEDING; CONTROLLED STUDY; GENE CONTROL; GENE EXPRESSION; GENE SWITCHING; HEMOPHILIA B; HOMEOSTASIS; HUMAN; HYPOPHYSECTOMY; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PUBERTY; REGULATORY MECHANISM; TRANSGENIC MOUSE;

AGING; ANIMALS; FACTOR IX; FEMALE; GENE EXPRESSION REGULATION; GROWTH HORMONE; HEMOPHILIA A; HOMEOSTASIS; HUMANS; MALE; MICE; MICE, TRANSGENIC; PROTEIN BINDING; SEX FACTORS; TIME FACTORS;

ANIMALIA; MUS MUSCULUS;

EID: 66049087865     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0902191106     Document Type: Article

References (35)

1. Kurachi S, Deyashiki Y, Takeshita J, Kurachi K (1999) Genetic mechanisms of age regulation of human blood coagulation factor IX. Science 285:739-743. (Pubitemid 129505078)
2. Zhang K, Kurachi S, Kurachi K (2002) Genetic mechanisms of age regulation of protein C and blood coagulation. J Biol Chem 277:4532-4540.
3. Kurachi K, Kurachi S (2005) Molecular mechanisms of age-related regulation of genes. J Thromb Haemost 3:909-914. (Pubitemid 41632818)
4. Bolton-Maggs PH, Pasi KJ (2003) Haemophilias A and B. Lancet 361:1801-1809.
5. Terwiel JP, Veltkamp JJ, Bertina RM, van der Linden IK, van Tilburg NH (1985) Coagulation factors in the premature infant born after about 32 weeks of gestation. Biol Neonate 47:9-18. (Pubitemid 15184280)
6. Sweeney JD, Hoernig LA (1993) Age-dependent effect on the level of factor IX. Am J Clin Pathol 99:687-688.
7. Lowe GD, et al. (1997) Epidemiology of coagulation factors, inhibitors and activation markers: The Third Glasgow MONICA Survey. I. Illustrative reference ranges by age, sex and hormone use. Br J Haematol 97:775-784. (Pubitemid 27321375)
8. Yao SN, DeSilva AH, Kurachi S, Samuelson LC, Kurachi K (1991) Characterization of a mouse factor IX cDNA and developmental regulation of the factor IX gene expression in liver. Thromb Haemostasis 65:52-58.
9. Kurachi S, Hitomi E, Kurachi K (1996) Age and sex dependent regulation of the factor IX gene in mice. Thromb Haemostasis 76:965-969. (Pubitemid 27013636)
10. Briet E, Bertina RM, van Tilburg NH, Veltkamp JJ (1982) Hemophilia B Leyden: A sex-linked hereditary disorder that improves after puberty. N Engl JMed 306:788-790.
11. Giannelli F, et al. (1993) Haemophilia B: Database of point mutations and short additions and deletions-fourth edition. Nucleic Acids Res 21:3075-3087. (Pubitemid 23223606)
12. Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K (1985) Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 24:3736-3750. (Pubitemid 15011912)
13. Hirosawa S, et al. (1990) Structural and functional basis of the developmental regulation of human coagulation factor IX gene: Factor IX Leyden. Proc Natl Acad Sci USA 87:4421-4425. (Pubitemid 20204112)
14. Kurachi S, et al. (1994) Regulatory mechanism ofhumanfactor IX gene: Protein binding at the Leyden-specific region. Biochemistry 33:1580-1591. (Pubitemid 24093709)
15. Reijnen MJ, Sladek FM, Bertina RM, Reitsma PH (1992) Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden. Proc Natl Acad Sci USA 89:6300-6303.
16. Crossley M, Brownlee GG (1990) Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B. Nature 345:444-446. (Pubitemid 20178251)
17. Crossley M, et al. (1992) Recovery from hemophilia B Leyden: An androgen-responsive element in the factor IX promoter. Science 257:377-379.
18. Heit JA, et al. (1999) Haemophilia B Brandenberg-type promoter mutation. Haemophilia 5:73-75. (Pubitemid 29094907)
19. Picketts DJ, Lillicrap DP, Mueller CR (1993) Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation. Nat Genet 3:175-179. (Pubitemid 23079802)
20. Boland EJ, et al. (1995) Age-specific regulation of clotting factor IX gene expression in normal and transgenic mice. Blood 86:2198-2205.
21. Reitsma PH, Bertina RM, Ploos van Amstel JK, Riemens A, Briet E (1988) The putative factor IX gene promoter in hemophilia B Leyden. Blood 72:1074-1076. (Pubitemid 18223008)
22. Sementchenko VI, Watson DK (2000) Ets target genes: Past, present and future. Oncogene 19:6533-6548. (Pubitemid 32108443)
23. Graves BJ, Gillespie ME, McIntosh LP (1996) DNA binding by the ETS domain. Nature 384:322. (Pubitemid 26408506)
24. Pufall MA, et al. (2005) Variable control of Ets-1 DNA binding by multiple phosphates in an unstructured region. Science 309:142-145. (Pubitemid 40934995)
25. Wasylyk B, Hahn SL, Giovane A (1993) The Ets family of transcription factors. Eur J Biochem 211:7-18. (Pubitemid 23039491)
26. Dittmer J (2003) The biology of the Ets1 proto-oncogene. Mol Cancer 2:29.
27. Zhang K, Kurachi S, Kurachi K (2002) New function for age-related stability element in conferring strict tissue-specific expression of human factor IX and protein C genes. Thromb Haemostasis 88:537-538.
28. Georgatsou E, Bourgarel P, Meo T (1993) Male-specific expression of mouse sex-limited protein requires growth hormone, not testosterone. Proc Natl Acad Sci USA 90:3626-3630. (Pubitemid 23111420)
29. Davey HW, Park SH, Grattan DR, McLachlan MJ, Waxman DJ (1999) STAT5b-deficient mice are growth hormone pulse-resistant. Role of STAT5b in sex-specific liver p450 expression. J Biol Chem 274:35331-35336. (Pubitemid 129512820)
30. Norstedt G, Palmiter R (1984) Secretory rhythm of growth hormone regulates sexual differentiation of mouse liver. Cell 36:805-812. (Pubitemid 14077945)
31. Wong JH, et al. (2008) Sex differences in thrombosis in mice are mediated by sex-specific growth hormone secretion patterns. J Clin Invest 118:2969-2978.
32. Kurachi S, Pantazatos DP, Kurachi K (1997) The carboxyl-terminal region of factor IX is essential for its secretion. Biochemistry 36:4337-4344. (Pubitemid 27171608)
33. Hogan B, Constantini F, Lacy E (1994) Manipulating the Mouse Embryo. A Laboratory Manual (Cold Spring Harbor Press, New York).
34. Dignam JD, Lebovitz RM, Roeder RG (1983) Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei. Nucleic Acids Res 11:1475-1489.
35. Svechnikov K, Ritzen EM, Holst M (2000) Androgen and estrogen stimulation of ornithine decarboxylase activity in mouse kidney. J Steroid Biochem Mol Biol 75:329-333. (Pubitemid 32244265)