دورية أكاديمية
أعرض في EDS

ADAM19 cleaves the PTH receptor and associates with brachydactyly type E.

التفاصيل البيبلوغرافية
العنوان: ADAM19 cleaves the PTH receptor and associates with brachydactyly type E.
المؤلفون: Aydin A; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Klenk C; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany., Nemec K; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.; Department of Structural Biology and Center of Excellence for Data-Driven Discovery, St. Jude Children's Research Hospital, Memphis, TN, USA., Işbilir A; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany., Martin LM; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Zauber H; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Rrustemi T; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Toka HR; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Schuster H; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Gong M; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Stricker S; Institute of Chemistry and Biochemistry, Freie Universität Berlin, Berlin, Germany., Bock A; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Rudolf-Boehm-Institute of Pharmacology and Toxicology, Medical Faculty, University of Leipzig, Leipzig, Germany., Bähring S; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Selbach M; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Lohse MJ; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; ISAR Bioscience Institute, Munich, Germany., Luft FC; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany friedrich.luft@charite.de.; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany.
المصدر: Life science alliance [Life Sci Alliance] 2024 Feb 08; Vol. 7 (4). Date of Electronic Publication: 2024 Feb 08 (Print Publication: 2024).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2575-1077 (Electronic) Linking ISSN: 25751077 NLM ISO Abbreviation: Life Sci Alliance Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Woodbury, NY] : Life Science Alliance, LLC, [2018]-
مواضيع طبية MeSH: Parathyroid Hormone-Related Protein*/genetics , Brachydactyly*/genetics, Humans ; Receptor, Parathyroid Hormone, Type 1/genetics ; Receptor, Parathyroid Hormone, Type 1/metabolism ; Metalloproteases ; ADAM Proteins
مستخلص: Brachydactyly type E (BDE), shortened metacarpals, metatarsals, cone-shaped epiphyses, and short stature commonly occurs as a sole phenotype. Parathyroid hormone-like protein (PTHrP) has been shown to be responsible in all forms to date, either directly or indirectly. We used linkage and then whole genome sequencing in a small pedigree, to elucidate BDE and identified a truncated disintegrin-and-metalloproteinase-19 (ADAM19) allele in all affected family members, but not in nonaffected persons. Since we had shown earlier that the extracellular domain of the parathyroid hormone receptor (PTHR1) is subject to an unidentified metalloproteinase cleavage, we tested the hypothesis that ADAM19 is a sheddase for PTHR1. WT ADAM19 cleaved PTHR1, while mutated ADAM-19 did not. We mapped the cleavage site that we verified with mass spectrometry between amino acids 64-65. ADAM-19 cleavage increased G q and decreased G s activation. Moreover, perturbed PTHR1 cleavage by ADAM19 increased ß-arrestin2 recruitment, while cAMP accumulation was not altered. We suggest that ADAM19 serves as a regulatory element for PTHR1 and could be responsible for BDE. This sheddase may affect other PTHrP or PTH-related functions.
(© 2024 Aydin et al.)
References: Nat Chem Biol. 2017 Mar;13(3):259-261. (PMID: 28024151)
PLoS One. 2015 Apr 14;10(4):e0122513. (PMID: 25875503)
Proc Natl Acad Sci U S A. 2020 Mar 31;117(13):7455-7460. (PMID: 32184323)
Proc Natl Acad Sci U S A. 2022 Aug 9;119(32):e2122037119. (PMID: 35914163)
Sci Transl Med. 2009 Oct 7;1(1):1ps1. (PMID: 20368152)
Endocrinology. 2016 Jan;157(1):141-9. (PMID: 26562265)
Hum Mol Genet. 2010 Mar 1;19(5):848-60. (PMID: 20015959)
Bioinformatics. 2005 May 1;21(9):2123-5. (PMID: 15647291)
Nat Rev Endocrinol. 2015 Dec;11(12):712-24. (PMID: 26303600)
Sci Signal. 2021 Sep 07;14(699):eabf1653. (PMID: 34516756)
J Biol Chem. 2022 Sep;298(9):102332. (PMID: 35933010)
Hum Mol Genet. 2008 Sep 15;17(18):2766-75. (PMID: 18559376)
Nat Struct Mol Biol. 2018 Dec;25(12):1086-1092. (PMID: 30455434)
Arthritis Rheum. 1998 Dec;41(12):2152-64. (PMID: 9870872)
Handb Exp Pharmacol. 2020;262:27-45. (PMID: 32462362)
Cancer Sci. 2007 May;98(5):621-8. (PMID: 17355265)
Trends Endocrinol Metab. 2019 Nov;30(11):860-874. (PMID: 31699241)
Am J Med Genet A. 2006 Dec 1;140(23):2646-706. (PMID: 17103447)
Nat Protoc. 2011 Apr;6(4):427-38. (PMID: 21412271)
Mol Pharmacol. 2008 Sep;74(3):605-13. (PMID: 18539702)
Elife. 2023 Mar 09;12:. (PMID: 36892459)
Eur J Endocrinol. 2010 May;162(5):979-86. (PMID: 20156969)
Front Endocrinol (Lausanne). 2018 May 16;9:241. (PMID: 29867773)
Sci Signal. 2018 Feb 20;11(518):. (PMID: 29463778)
J Biol Chem. 2021 Jan-Jun;296:100374. (PMID: 33548228)
Mol Cell Biol. 2004 Jan;24(1):96-104. (PMID: 14673146)
Science. 1990 Jun 22;248(4962):1547-50. (PMID: 2163110)
Bone. 2023 Apr;169:116681. (PMID: 36708855)
Int J Mol Sci. 2023 Jun 20;24(12):. (PMID: 37373559)
Ann N Y Acad Sci. 2006 Apr;1068:1-13. (PMID: 16831900)
Cell Rep. 2019 Oct 15;29(3):603-616.e5. (PMID: 31618630)
J Biol Chem. 2010 Sep 24;285(39):30355-62. (PMID: 20656684)
Nat Genet. 2002 Jan;30(1):97-101. (PMID: 11731797)
Nat Chem Biol. 2009 Oct;5(10):734-42. (PMID: 19701185)
S Afr Med J. 1980 Aug 9;58(6):255-7. (PMID: 7404233)
Nat Genet. 2015 Jun;47(6):647-53. (PMID: 25961942)
Commun Biol. 2023 Jun 2;6(1):599. (PMID: 37268817)
Future Med Chem. 2022 Jan;14(2):81-96. (PMID: 34927445)
J Biol Chem. 2003 Jun 20;278(25):22331-40. (PMID: 12682046)
J Biol Chem. 2006 Apr 21;281(16):10856-64. (PMID: 16492667)
Br J Pharmacol. 2001 Nov;134(6):1113-36. (PMID: 11704631)
Sci Rep. 2019 Oct 8;9(1):14432. (PMID: 31594997)
Nat Methods. 2020 Jan;17(1):41-44. (PMID: 31768060)
Genes Dev. 1999 Aug 15;13(16):2072-86. (PMID: 10465785)
Am J Hum Genet. 1998 Jul;63(1):259-66. (PMID: 9634505)
Nucleic Acids Res. 2023 Jul 5;51(W1):W338-W342. (PMID: 37140039)
Sci Signal. 2010 Sep 28;3(141):ra69. (PMID: 20876872)
Science. 2010 Jan 1;327(5961):78-81. (PMID: 19892942)
Mol Cell Proteomics. 2014 Aug;13(8):2056-71. (PMID: 24623587)
J Biol Chem. 2009 Oct 9;284(41):28382-28391. (PMID: 19674967)
Clin Genet. 2018 Nov;94(5):457-460. (PMID: 29987841)
J Clin Invest. 2012 Nov;122(11):3990-4002. (PMID: 23093776)
Am J Hum Genet. 2010 Mar 12;86(3):434-9. (PMID: 20170896)
J Biol Chem. 2010 Mar 19;285(12):8665-74. (PMID: 20080964)
Nat Genet. 1996 May;13(1):98-100. (PMID: 8673114)
Arthritis Res Ther. 2007;9(2):R33. (PMID: 17391539)
Front Endocrinol (Lausanne). 2022 Feb 22;13:839351. (PMID: 35273573)
Science. 1996 Aug 2;273(5275):613-22. (PMID: 8662546)
J Pediatr. 1974 Feb;84(2):251-4. (PMID: 4810735)
EMBO J. 2018 Aug 1;37(15):. (PMID: 29921581)
JCI Insight. 2023 Mar 8;8(5):. (PMID: 36883568)
Mol Cell. 2022 Sep 15;82(18):3468-3483.e5. (PMID: 35932760)
Histol Histopathol. 2021 Oct;36(10):1021-1036. (PMID: 34137454)
J Biol Chem. 1998 Jul 3;273(27):16890-6. (PMID: 9642250)
Elife. 2018 May 10;7:. (PMID: 29745899)
Int J Mol Sci. 2020 Jun 09;21(11):. (PMID: 32527062)
سلسلة جزيئية: PDB 6fj3; 7vvl
المشرفين على المادة: 0 (Parathyroid Hormone-Related Protein)
0 (Receptor, Parathyroid Hormone, Type 1)
EC 3.4.- (Metalloproteases)
EC 3.4.24.- (ADAM19 protein, human)
EC 3.4.24.- (ADAM Proteins)
SCR Disease Name: Brachydactyly, Type E
تواريخ الأحداث: Date Created: 20240208 Date Completed: 20240214 Latest Revision: 20240214
رمز التحديث: 20240214
مُعرف محوري في PubMed: PMC10853454
DOI: 10.26508/lsa.202302400
PMID: 38331475
قاعدة البيانات: MEDLINE
الوصف
تدمد:2575-1077
DOI:10.26508/lsa.202302400