PMID: 18724009Aug 30, 2008Paper

Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density

Biomedical Research
Natsuko SogabeMasae Goseki-Sone

Abstract

Based on studies of hypophosphatasia, which is a systemic skeletal disorder resulting from tissuenonspecific alkaline phosphatase (TNSALP) deficiency, TNSALP was suggested to be indispensable for bone mineralization. Recently, we demonstrated that there was a significant difference in bone mineral density (BMD) among haplotypes, which was lowest among TNSALP (787T [Tyr-246Tyr]) homozygotes, highest among TNSALP (787T > C [Tyr246His]) homozygotes, and intermediate among heterozygotes. To analyze protein translated from the TNSALP gene 787T > C, we performed the biosynthesis of TNSALPs using TNSALP cDNA expression vectors. TNSALP (787T) and TNSALP (787T > C) were synthesized similarly as a high-mannose-type 66-kDa form, becoming an 80-kDa form. Expression of the human 787T > C TNSALP gene using the cultured mouse marrow stromal cell line ST2 demonstrated that the protein translated from 787T > C exhibited an ALP-specific activity similarly to that of 787T. Interestingly, the Km value for TNSALP in ST2 cells transfected with the 787T > C TNSALP gene was decreased significantly compared to that of cells carrying the 787T gene (P < 0.01). These results suggest that the significant difference in Km values between the proteins transla...Continue Reading

References

Oct 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·P S HenthornM P Whyte
Dec 9, 1998·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·M Goseki-SoneS Oida
Feb 15, 2001·JAMA : the Journal of the American Medical Association·UNKNOWN NIH Consensus Development Panel on Osteoporosis Prevention, Diagnosis, and Therapy
Jan 5, 2002·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·H OrimoT Shimada
Oct 9, 2002·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Ken-ichi KawanoHiroshi Kawaguchi
Nov 5, 2002·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Hisashi WatanabeIsao Ishikawa
Nov 26, 2002·Biochemical and Biophysical Research Communications·Masae Goseki-SoneIkuko Ezawa
Apr 13, 2005·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Masae Goseki-SoneTakayuki Hosoi

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Citations

Aug 11, 2010·Journal of Bone and Mineral Metabolism·Takayuki Hosoi
Jun 1, 2009·Journal of Maxillofacial and Oral Surgery·Olga TsilenkoFrancesco Carinci
Apr 15, 2011·Annals of Human Genetics·Etienne MornetBrigitte Simon-Bouy
Feb 24, 2016·Molecular Therapy. Methods & Clinical Development·Aki Nakamura-TakahashiTakashi Okada
Aug 6, 2010·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Seiko YamamotoTakashi Shimada
Feb 16, 2010·Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi·Hideo Orimo
Feb 20, 2013·Journal of Nutritional Science and Vitaminology·Mayu HaraikawaMasae Goseki-Sone
Jun 8, 2021·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·L MasiM L Brandi
Jul 20, 2021·Regenerative Therapy·Akihiro HasegawaAkihiro Umezawa

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