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

The Journal of Clinical Investigation
A S JobertC Silve

Abstract

We report the absence of functional parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptors (PTH/PTHrP receptor) in Blomstrand chondrodysplasia, a genetic disorder characterized by advanced endochondral bone maturation. Analysis of PTH/PTHrP receptor genomic DNA from a patient with Blomstrand chondrodysplasia demonstrated that the patient was heterozygous for a point mutation (G--> A substitution at nucleotide 1176) inherited from the mother. Analysis of PTH/PTHrP receptor cDNA demonstrated that: (a) this point mutation caused the deletion of the first 11 amino acids of exon M5 (encoding the fifth transmembrane domain of the receptor), resulting from the use of a novel splice site created by the base substitution; (b) the mutant receptor was well expressed in COS-7 cells, but did not bind PTH or PTHrP, and failed to induce detectable stimulation of either cAMP or inositol phosphate production in response to these ligands; and (c) the paternal allele was not expressed. Thus, only the abnormal and nonfunctional PTH/PTHrP receptors encoded by the maternal allele were expressed by chondrocytes from this patient. In view of the known role played by the PTH/PTHrP receptor in bone and cartilage development, these results stron...Continue Reading

References

Jan 1, 1985·Pediatric Radiology·S BlomstrandJ Säve-Söderbergh
Jul 1, 1996·The Journal of Clinical Endocrinology and Metabolism·A M Spiegel
May 3, 1996·American Journal of Medical Genetics·J G LeroyH Roels
Sep 17, 1996·Proceedings of the National Academy of Sciences of the United States of America·E C WeirA E Broadus
Aug 22, 1997·American Journal of Medical Genetics·A LoshkajianP Maroteaux

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Citations

Feb 6, 2010·Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopädie : Organ/official Journal Deutsche Gesellschaft Für Kieferorthopädie·Angelika Stellzig-EisenhauerBernhard H F Weber
Sep 22, 2007·Calcified Tissue International·Carles Vilariño-GüellMatthew A Brown
Dec 22, 2005·Journal of Bone and Mineral Metabolism·Yuan-Yuan ZhangHong-Wen Deng
Dec 23, 2003·Best Practice & Research. Clinical Endocrinology & Metabolism·Geert CarmelietRoger Bouillon
Oct 5, 2001·Trends in Genetics : TIG·W McLean, B R Olsen
Jul 20, 1999·Molecular and Cellular Endocrinology·D A Stevens, G R Williams
Jul 29, 2000·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·D Inoue, T Matsumoto
Jul 25, 2000·Przegla̧d lekarski·G Bednarek-TupikowskaA Szymańska
Oct 18, 2000·Endocrinology and Metabolism Clinics of North America·G J Strewler
Jul 11, 2001·Trends in Endocrinology and Metabolism : TEM·M Centrella, T L McCarthy
Aug 16, 2001·Trends in Endocrinology and Metabolism : TEM·N Garfield, A C Karaplis
Dec 5, 2006·Nature Clinical Practice. Endocrinology & Metabolism·Andrea G LaniaAnna Spada
Jan 20, 2000·The New England Journal of Medicine·G J Strewler
Jun 25, 2010·The New England Journal of Medicine·Dominique Prié, Gérard Friedlander
Dec 19, 2008·Proceedings of the National Academy of Sciences of the United States of America·Dengshun MiaoAndrew C Karaplis
Jun 19, 2008·Human Molecular Genetics·Alain CouvineauCaroline Silve
Aug 5, 2000·Current Opinion in Nephrology and Hypertension·U Chung, H M Kronenberg
Jul 18, 2002·Annals of the New York Academy of Sciences·Lee S WeinsteinJie Liu
Oct 14, 2000·Annual Review of Cell and Developmental Biology·B R OlsenW Wang
Aug 27, 2009·American Journal of Physiology. Endocrinology and Metabolism·Dibiyendu PandaAndrew C Karaplis
Nov 9, 2000·The Journal of Clinical Investigation·J LiuL S Weinstein
Feb 13, 2001·The Journal of Clinical Investigation·U I ChungH M Kronenberg
Oct 17, 2012·Journal of Dental Research·H L Chan, L K McCauley
Jul 9, 2010·The Journal of Clinical Endocrinology and Metabolism·Dominique N LongEmily L Germain-Lee
Jul 15, 2011·The Journal of Clinical Endocrinology and Metabolism·Janine SanchezMichael A Levine
Aug 4, 2004·Environmental Health Perspectives·James R CampbellJ Edward Puzas
Sep 22, 1999·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·B D Kuizon, I B Salusky
Jan 5, 2000·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·E L DuncanJ A Wass
Aug 24, 1999·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·M A Levine
Nov 25, 2000·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·M C EddyM A Levine
Dec 29, 2000·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·D A StevensG R Williams
Jun 7, 2000·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·B C van der EerdenJ M Wit
Jul 13, 2011·International Journal of Endocrinology·Jessica Mackenzie-FederAneal Khan
Jun 19, 2013·Clinical Oral Investigations·Helmut RothBernhard Hf Weber
Dec 22, 2010·Proceedings of the National Academy of Sciences of the United States of America·Takao HiraiHenry M Kronenberg
Sep 30, 1998·Proceedings of the National Academy of Sciences of the United States of America·H JüppnerM Vikkula
Aug 10, 2010·Annual Review of Genomics and Human Genetics·Dustin BaldridgeBrendan Lee
Feb 16, 2010·American Journal of Orthodontics and Dentofacial Orthopedics : Official Publication of the American Association of Orthodontists, Its Constituent Societies, and the American Board of Orthodontics·Sylvia A Frazier-BowersJames L Ackerman
Dec 13, 2006·Best Practice & Research. Clinical Endocrinology & Metabolism·Giovanna Mantovani, Anna Spada

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