Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia

Journal of Clinical Investigation

Volumn 102, Issue 1, 1998, Pages 34-40

  Jobert, Anne Sixtine ^a   Zhang, Ping ^a   Couvineau, Alain ^a   Bonaventure, Jacky ^a   Roume, Joëlle ^b   Le Merrer, Martine ^a   Silve, Caroline ^a  

^a INSERM   (France)

^b HÔPITAL SAINT ANTOINE   (France)

Author keywords

Alternate splicing; Blomstrand chondrodysplasia; Null allele; Point mutation; PTH PTHrP receptor

Indexed keywords

PARATHYROID HORMONE RECEPTOR; PARATHYROID HORMONE RELATED PROTEIN;

ALLELE; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; BONE DEVELOPMENT; BONE MATURATION; CASE REPORT; CHONDRODYSPLASIA; FETUS; FETUS DEVELOPMENT; HUMAN; LIGAND BINDING; PHOSPHATE METABOLISM; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0032128253     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI2918     Document Type: Article

References (33)

1. Segre, G.V. 1996. Receptors for parathyroid hormone and parathyroid hormone related peptide. In Principles in Bone Biology. J.H. Bilezikian and L.G. Raisz, editors. Academic Press, New York. 377-403.
2. Karaplis, A.C., A. Luz, J. Glowacki, R.T. Bronson, V.L.J. Tybulewicz, H.M. Kronenberg, and R.C. Mulligan. 1994. Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev. 8:277-289.
3. Weir, E.C., W.M. Philbrick, M. Amling, L.A. Neff, R. Baron, and A.E. Broadus. 1996. Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation. Proc. Natl. Acad. Sci. USA. 93:10240-10245.
4. Lanske, B., A.C. Karaplis, K. Lee, A. Luz, A. Vortkamp, A. Pirro, M. Karperien, L.H.K. Defize, C. Ho, R.C. Mulligan, et al. 1996. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 273:663-666.
5. Schipani, E., K. Kruse, and H. Jüppner. 1995. A constitutively active mutant PTH-PTHrp receptor in Jansen-type metaphyseal chondrodysplasia. Science. 268:98-100.
6. Schipani, E., C.B. Langman, A.M. Parfitt, G.S. Jensen, S. Kiküchi, S.W. Kooh, W.G. Cole, and H. Jüppner. 1996. Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N. Engl. J. Med. 335:708-714.
7. Schipani, E., L.S. Weinstein, C. Bergwitz, A. Iida-Klein, X.F. Kong, M. Stuhrmann, K. Kruse, M.P. Whyte, T. Murray, J. Schmidtke, et al. 1995. Pseudohypothyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J. Clin. Endocrinol. Metab. 80:1611-1621.
8. Ding, C.L., T.B. Usdin, M. Labuda, and M.A. Levine. 1996. Molecular genetic analysis of pseudohypoparathyroidism type 1b: exclusion of the genes encoding the type 1 and type 2 PTH receptors. J. Bone Miner. Res. 11:S302. (Abstr.)
9. Bettoun, J.D., M. Minagawa, M.Y. Kwan, H.S. Lee, T. Yasuda, G.N. Hendy, D. Goltzman, and J.H. White. 1997. Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene: analysis of deoxyribonucleic acid from normal subjects and patients with pseudohypoparathyroidism type 1b. J. Clin. Endocrinol. Metab. 82:1031-1040.
10. Suarez, F., J.J. Lebrun, D. Lecossier, B. Escoubet, C. Coureau, and C. Silve. 1995. Expression and modulation of the parathyroid hormone (PTH)/ PTH-related peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type Ib pseudohypoparathyroidism. J. Clin. Endocrinol. Metab. 80:965-970.
11. Spiegel, A.M., and L.S. Weinstein. 1995. Pseudohypoparathyroidism. In The Metabolic and Molecular Bases of Inherited Disease. C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, editors. McGraw-Hill, New York. 3073-3089.
12. Silve, C. 1995. Pseudohypoparathyroidism syndromes: the many faces of parathyroid hormone resistance. Eur. J. Endocrinol. 133:145-146.
13. Blomstrand, S., I. Claësson, and J. Säve-Söderbergh. 1985. A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr. Radiol. 15:141-143.
14. Spranger, J., and P. Maroteaux. 1990. The lethal osteochondrodysplasias. In Advances in Human Genetics. H. Harris and K. Hirschhorn, editors. 141-143. Plenum Press, New York and London.
15. Loshkajian, A., J. Roume, V. Stanescu, A.L. Delezoïde, F. Stampf, and P. Maroteaux. 1997. Familial Blomstrand chondrodysplasia: further delineation. Am. J. Med. Genet. 71:283-288.
16. Schipani, E., H. Karga, A.C. Karaplis, J.T. Potts, H.M. Kronenberg, G.V. Segre, A.B. Abou-Samra, and H. Jüppner. 1993. Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor. Endocrinology. 132:2157-2165.
17. Chomczynski, P., and N. Sacchi. 1987. Single step-method of RNA isolation by acid-guanidium-thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162:156-159.
18. Jobert, A.-S., C. Leroy, D. Butlen, and C. Silve. 1997. Parathyroid hormone-induced calcium release from intracellular stores in a human kidney cell line in the absence of stimulation of cyclic adenosine 3′,5′-monophosphate. Endocrinology. 138:5282-5292.
19. Couvineau, A., C. Rouyer-Fessard, D. Darmoul, J-J. Maoret, I. Carrero, E. Ogier-Denis, and M. Laburthe. 1994. Human intestinal VIP receptor: cloning and functional expression of two cDNA encoding proteins with different N-terminal domains. Biochem. Biophys. Res. Commun. 200:769-776.
20. Jobert, A.-S., I. Fernandes, G. Turner, C. Coureau, D. Prie, R.A. Nissenson, G. Friedlander, and C. Silve. 1996. Expression of alternatively spliced isoforms of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger RNA in human kidney and bone cells. Mol. Endocrinol. 10:1066-1076.
21. Couvineau, A., C. Fabre, P. Gaudin, J.-J. Maoret, and M. Laburthe. 1996. Mutagenesis of N-glycosylation sites in the human vasoactive intestinal peptide 1 receptor. Evidence that asparagine 58 or 69 is crucial for correct delivery of the receptor to plasma membrane. Biochemistry. 35:1745-1752.
22. Lee, K., B. Lanske, A.C. Karaplis, J.D. Deeds, H. Kohno, R.A. Nissenson, H.M. Kronenberg, and G.V. Segre. 1996. Parathyroid hormone peptide delays terminal differentiation of chondrocytes during endochondral bone development. Endocrinology. 137:5109-5118.
23. Lee, K., J.D. Deeds, and G.V. Segre. 1994. Expression of parathyroid hormone-related peptide and its receptor messenger ribonucleic acids during fetal development of rats. Endocrinology. 136:453-463.
24. Schipani, E., B. Lanske, J. Hunzelman, A. Luz, C.S. Kovacs, K. Lee, A. Pirro, H.M. Kronenberg, and H. Jüppner. 1997. Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide. Proc. Natl. Acad. Sci. USA. 94:13689-13694.
25. Young, I.D., J.M. Zuccollo, and N.J. Broderick. 1993. A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? J. Med. Genet. 30:155-157.
26. Leroy, J.G., G. Keersmaeckers, M. Coppens, J.E. Dumon, and H. Roels. 1996. Blomstrand lethal osteochondrodysplasia. Am. J. Mat. Genet. 63:84-89.
27. McCuaig, K.A., H.S. Lee, C.J. Clarke, H. Assa, J. Horsford, and J.H. While. 1995. Parathyroid/parathyroid hormone related peptide receptor gene transcripts are expressed from tissue-specific and ubiquitous promoters. Nucl. Acids Res. 23:1948-1955.
28. Kong, X.F., E. Schipani, B. Lanske, H. Joun, M. Karperien, L.H.K. Defize, H. Jüppner, J.T. Potts, G.V. Segre, H.M. Kronenberg, and A.B. AbouSamra. 1995. The rat, mouse and human genes encoding the receptor for parathyroid hormone and parathyroid hormone-related peptide are highly homologous. Biochem. Biophys. Res. Commun. 200:1290-1299.
29. Bettoun, J.D., M. Minagawa, T. Yasuda, G.N. Hendy, C. Goodyer, D. Goltzman, and J.H. White. 1997. A developmental switch in expression of human PTH/PTHrP receptor gene transcripts. J. Bone Miner. Res. 12:P243. (Abstr.)
30. Krawczak, M., J. Reiss, and D.N. Cooper. 1992. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet. 40:41-54.
31. Spiegel, A.M. 1996. Genetic basis of endocrine disease. Mutations in G proteins and G protein-coupled receptors in endocrine disease. J. Clin. Endocrinol. Metab. 81:2434-2442.
32. 2]PTH-(1-34) binding and signaling in the transmembrane region of the parathyroid hormone receptor. Endocrinology. 135:1186-1194.
33. 2+ signal transduction pathways. J. Biol. Chem. 271:33382-33389.