Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis

Cellular Signalling

Volumn 26, Issue 11, 2014, Pages 2446-2459

  Kaname, Tadashi ^a   Ki, Chang Seok ^b   Niikawa, Norio ^c   Baillie, George S ^d   Day, Jonathan P ^e   Yamamura, Ken ichi ^f   Ohta, Tohru ^c   Nishimura, Gen ^g   Mastuura, Nobuo ^h   Kim, Ok Hwa ⁱ   Sohn, Young Bae ^j   Kim, Hyun Woo ^k   Cho, Sung Yoon ^b   Ko, Ah Ra ^l   Lee, Jin Young ^l   Kim, Hyun Wook ^m   Ryu, Sung Ho ^m   Rhee, Hwanseok ⁿ   Yang, Kap Seok ⁿ   Joo, Keehyoung ^o   Lee, Jooyoung ^o   Kim, Chi Hwa ^p   Cho, Kwang Hyun ^q   Kim, Dongsan ^q   Yanagi, Kumiko ^a   Naritomi, Kenji ^a   Yoshiura, Ko Ichiro ^r   Kondoh, Tatsuro ^s   Nii, Eiji ^t   Tonoki, Hidefumi ^u   Houslay, Miles D ^v   Jin, Dong Kyu ^b   more..

^a UNIVERSITY OF THE RYUKYUS   (Japan)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

^d UNIVERSITY OF GLASGOW   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f KUMAMOTO UNIVERSITY   (Japan)

^g TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^h SEITOKU UNIVERSITY   (Japan)

ⁱ Gachon University   (South Korea)

^j Ajou University School of Medicine   (South Korea)

^k Yonsei University College of Medicine   (South Korea)

^l Samsung Medical Center   (South Korea)

^m Pohang University of Science and Technology (POSTECH)   (South Korea)

ⁿ Macrogen Inc   (South Korea)

^o Korea Institute for Advanced Study   (South Korea)

^p Mogam Biotechnology Research Institute   (South Korea)

^q Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

^r NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^s Misakaenosono Mutsumi Developmental   (Japan)

^t Department of Orthopaedic Surgery   (Japan)

^u Tenshi Hospital   (Japan)

^v KING'S COLLEGE LONDON   (United Kingdom)

more..

Author keywords

Acrodysostosis; CAMP; Knok out rat; PDE4D

Indexed keywords

BETA ARRESTIN; CCAAT ENHANCER BINDING PROTEIN; CYCLIC AMP; CYCLIC AMP DEPENDENT PROTEIN KINASE; CYCLIC AMP PHOSPHODIESTERASE 4D; PHOSPHODIESTERASE IV; UNCLASSIFIED DRUG; PDE4D PROTEIN, HUMAN; PDE4D PROTEIN, RAT;

ACRODYSOSTOSIS; ADOLESCENT; ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; B LYMPHOCYTE; BINDING AFFINITY; BONE DISEASE; BONE DYSPLASIA; CELLULAR DISTRIBUTION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; FORELIMB; GENE; GENE MUTATION; HEK293 CELL LINE; HETEROZYGOSITY; HUMAN; HUMAN CELL; KNOCKOUT RAT; MALE; METACARPAL BONE; MOLECULAR DOCKING; MOLECULAR MODEL; MOLECULAR PATHOLOGY; NONHUMAN; NUCLEOTIDE SEQUENCE; PHALANX; PHOSPHODIESTERASE 4D GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PRKAR1A GENE; PROTEIN PHOSPHORYLATION; RAT; SCHOOL CHILD; SIGNAL TRANSDUCTION; AMINO ACID SUBSTITUTION; ANIMAL; CHEMISTRY; CHONDRODYSPLASIA; CLINICAL TRIAL; DYSOSTOSIS; ENZYMOLOGY; GENETICS; HETEROZYGOTE; INTELLECTUAL IMPAIRMENT; METABOLISM; MISSENSE MUTATION; MULTICENTER STUDY; MUTANT RAT STRAIN; RADIOGRAPHY; SECOND MESSENGER;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIMALS; CHILD; CHILD, PRESCHOOL; CYCLIC AMP-DEPENDENT PROTEIN KINASES; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 4; DYSOSTOSES; FEMALE; HEK293 CELLS; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MOLECULAR DOCKING SIMULATION; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; RATS; RATS, MUTANT STRAINS; SECOND MESSENGER SYSTEMS;

EID: 84906061745     PISSN: 08986568     EISSN: 18733913     Source Type: Journal    
DOI: 10.1016/j.cellsig.2014.07.025     Document Type: Article

References (73)

1. Wilson L.C., Oude Luttikhuis M.E., Baraitser M., Kingston H.M., Trembath R.C. J. Med. Genet. 1997, 34:133-136.
2. Butler M.G., Rames L.J., Wadlington W.B. Am. J. Med. Genet. 1988, 30:971-980.
3. Houslay M.D., Milligan G. Trends Biochem. Sci. 1997, 22:217-224.
4. Graham J.M., Krakow D., Tolo V.T., Smith A.K., Lachman R.S. Pediatr. Radiol. 2001, 31:2-9.
5. Linglart A., Menguy C., Couvineau A., Auzan C., Gunes Y., Cancel M., Motte E., Pinto G., Chanson P., Bougneres P., Clauser E., Silve C. N. Engl. J. Med. 2011, 364:2218-2226.
6. Breckler M., Berthouze M., Laurent A.C., Crozatier B., Morel E., Lezoualc'h F. Cell. Signal. 2011, 23:1257-1266.
7. Houslay M.D. Trends Biochem. Sci. 2010, 35:91-100.
8. Lugnier C. Pharmacol. Ther. 2006, 109:366-398.
9. Houslay M.D., Schafer P., Zhang K.Y. Drug Discov. Today 2005, 10:1503-1519.
10. Page C.P., Spina D. Curr. Opin. Pharmacol. 2012, 12:275-286.
11. Page C.P., Spina D. Handb. Exp. Pharmacol. 2011, 391-414.
12. Beghe B., Rabe K.F., Fabbri L.M. Am. J. Respir. Crit. Care Med. 2013, 188:271-278.
13. Hatzelmann A., Morcillo E.J., Lungarella G., Adnot S., Sanjar S., Beume R., Schudt C., Tenor H. Pulm. Pharmacol. Ther. 2010, 23:235-256.
14. Rabe K.F. Br. J. Pharmacol. 2011, 163:53-67.
15. Schafer P.H., Day R.M. J. Am. Acad. Dermatol. 2013, 68:1041-1042.
16. Wittmann M., Helliwell P.S. Dermatol. Ther. (Heidelb) 2013, 3:1-15.
17. Conti M., Beavo J. Annu. Rev. Biochem. 2007, 76:481-511.
18. Keravis T., Lugnier C. Curr. Pharm. Des. 2010, 16:1114-1125.
19. Houslay M.D., Baillie G.S., Maurice D.H. Circ. Res. 2007, 100:950-966.
20. McCormick K., Baillie G.S. Curr. Opin. Genet. Dev. 2014, 27C:20-25.
21. McCahill A., McSorley T., Huston E., Hill E.V., Lynch M.J., Gall I., Keryer G., Lygren B., Tasken K., van Heeke G., Houslay M.D. Cell. Signal. 2005, 17:1158-1173.
22. Bolger G.B., Baillie G.S., Li X., Lynch M.J., Herzyk P., Mohamed A., Mitchell L.H., McCahill A., Hundsrucker C., Klussmann E., Adams D.R., Houslay M.D. Biochem. J. 2006, 398:23-36.
23. Baillie G.S., Sood A., McPhee I., Gall I., Perry S.J., Lefkowitz R.J., Houslay M.D. Proc. Natl. Acad. Sci. U. S. A. 2003, 100:940-945.
24. Terrin A., Monterisi S., Stangherlin A., Zoccarato A., Koschinski A., Surdo N.C., Mongillo M., Sawa A., Jordanides N.E., Mountford J.C., Zaccolo M. J. Cell Biol. 2012, 198:607-621.
25. Lynch M.J., Baillie G.S., Mohamed A., Li X., Maisonneuve C., Klussmann E., van Heeke G., Houslay M.D. J. Biol. Chem. 2005, 280:33178-33189.
26. Shakur Y., Pryde J.G., Houslay M.D. Biochem. J. 1993, 292(Pt 3):677-686.
27. Huston E., Gall I., Houslay T.M., Houslay M.D. J. Cell Sci. 2006, 119:3799-3810.
28. Baillie G.S., Huston E., Scotland G., Hodgkin M., Gall I., Peden A.H., MacKenzie C., Houslay E.S., Currie R., Pettitt T.R., Walmsley A.R., Wakelam M.J., Warwicker J., Houslay M.D. J. Biol. Chem. 2002, 277:28298-28309.
29. Lynch M.J., Baillie G.S., Houslay M.D. Biochem. Soc. Trans. 2007, 35:938-941.
30. Vicini E., Conti M. Mol. Endocrinol. 1997, 11:839-850.
31. Le Jeune I.R., Shepherd M., Van Heeke G., Houslay M.D., Hall I.P. J. Biol. Chem. 2002, 277:35980-35989.
32. Wallace D.A., Johnston L.A., Huston E., MacMaster D., Houslay T.M., Cheung Y.F., Campbell L., Millen J.E., Smith R.A., Gall I., Knowles R.G., Sullivan M., Houslay M.D. Mol. Pharmacol. 2005, 67:1920-1934.
33. McCahill A., Campbell L., McSorley T., Sood A., Lynch M.J., Li X., Yan C., Baillie G.S., Houslay M.D. Cell. Signal. 2008, 20:2071-2083.
34. Bolger G., Michaeli T., Martins T., St John T., Steiner B., Rodgers L., Riggs M., Wigler M., Ferguson K. Mol. Cell. Biol. 1993, 13:6558-6571.
35. Sette C., Conti M. J. Biol. Chem. 1996, 271:16526-16534.
36. Oki N., Takahashi S.I., Hidaka H., Conti M. J. Biol. Chem. 2000, 275:10831-10837.
37. Mika D., Richter W., Westenbroek R.E., Catterall W.A., Conti M. J. Cell Sci. 2014, 127:1033-1042.
38. Willoughby D., Baillie G.S., Lynch M.J., Ciruela A., Houslay M.D., Cooper D.M. J. Biol. Chem. 2007, 282:34235-34249.
39. Hoffmann R., Wilkinson I.R., McCallum J.F., Engels P., Houslay M.D. Biochem. J. 1998, 333(Pt 1):139-149.
40. Beard M.B., Olsen A.E., Jones R.E., Erdogan S., Houslay M.D., Bolger G.B. J. Biol. Chem. 2000, 275:10349-10358.
41. MacKenzie S.J., Baillie G.S., McPhee I., MacKenzie C., Seamons R., McSorley T., Millen J., Beard M.B., van Heeke G., Houslay M.D. Br. J. Pharmacol. 2002, 136:421-433.
42. Collins D.M., Murdoch H., Dunlop A.J., Charych E., Baillie G.S., Wang Q., Herberg F.W., Brandon N., Prinz A., Houslay M.D. Cell. Signal. 2008, 20:2356-2369.
43. MacKenzie K.F., Wallace D.A., Hill E.V., Anthony D.F., Henderson D.J., Houslay D.M., Arthur J.S., Baillie G.S., Houslay M.D. Biochem. J. 2011, 435:755-769.
44. Niikawa N., Matsuda I., Ohsawa T., Kajii T. Hum. Genet. 1978, 42:227-232.
45. Ko J.M., Kwack K.S., Kim S.-H., Kim H.-J. J. Genet. Med. 2010, 7:145-150.
46. Nii E., Urawa M., Nshimura T., Kitou H., Ikegawa S., Shimizu S., Taneda H., Uchida A., Niikawa N. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007, 144B:824-825.
47. Bolger G.B., Erdogan S., Jones R.E., Loughney K., Scotland G., Hoffmann R., Wilkinson I., Farrell C., Houslay M.D. Biochem. J. 1997, 328(Pt 2):539-548.
48. Joo K., Lee J., Lee S., Seo J.H., Lee S.J., Lee J. Proteins 2007, 69(Suppl. 8):83-89.
49. Joo K., Lee J., Kim I., Lee S.J., Lee J. Biophys. J. 2008, 95:4813-4819.
50. Joo K., Lee J., Seo J.H., Lee K., Kim B.G., Lee J. Proteins 2009, 75:1010-1023.
51. Tress M., Cheng J., Baldi P., Joo K., Lee J., Seo J.H., Lee J., Baker D., Chivian D., Kim D., Ezkurdia I. Proteins 2007, 69(Suppl. 8):137-151.
52. Trott O., Olson A.J. J. Comput. Chem. 2010, 31:455-461.
53. Lu B., Geurts A.M., Poirier C., Petit D.C., Harrison W., Overbeek P.A., Bishop C.E. Mamm. Genome 2007, 18:338-346.
54. Baillie G.S. FEBS J. 2009, 276:1790-1799.
55. Houslay M.D., Adams D.R. Biochem. J. 2003, 370:1-18.
56. Smith K.J., Baillie G.S., Hyde E.I., Li X., Houslay T.M., McCahill A., Dunlop A.J., Bolger G.B., Klussmann E., Adams D.R., Houslay M.D. Cell. Signal. 2007, 19:2612-2624.
57. Edwards H.V., Christian F., Baillie G.S. Semin. Cell Dev. Biol. 2012, 23:181-190.
58. Himes B.E., Hunninghake G.M., Baurley J.W., Rafaels N.M., Sleiman P., Strachan D.P., Wilk J.B., Willis-Owen S.A., Klanderman B., Lasky-Su J., Lazarus R., Murphy A.J., Soto-Quiros M.E., Avila L., Beaty T., Mathias R.A., Ruczinski I., Barnes K.C., Celedon J.C., Cookson W.O., Gauderman W.J., Gilliland F.D., Hakonarson H., Lange C., Moffatt M.F., O'Connor G.T., Raby B.A., Silverman E.K., Weiss S.T. Am. J. Hum. Genet. 2009, 84:581-593.
59. Shifman S., Bhomra A., Smiley S., Wray N.R., James M.R., Martin N.G., Hettema J.M., An S.S., Neale M.C., van den Oord E.J., Kendler K.S., Chen X., Boomsma D.I., Middeldorp C.M., Hottenga J.J., Slagboom P.E., Flint J. Mol. Psychiatry 2008, 13:302-312.
60. Gretarsdottir S., Thorleifsson G., Reynisdottir S.T., Manolescu A., Jonsdottir S., Jonsdottir T., Gudmundsdottir T., Bjarnadottir S.M., Einarsson O.B., Gudjonsdottir H.M., Hawkins M., Gudmundsson G., Gudmundsdottir H., Andrason H., Gudmundsdottir A.S., Sigurdardottir M., Chou T.T., Nahmias J., Goss S., Sveinbjornsdottir S., Valdimarsson E.M., Jakobsson F., Agnarsson U., Gudnason V., Thorgeirsson G., Fingerle J., Gurney M., Gudbjartsson D., Frigge M.L., Kong A., Stefansson K., Gulcher J.R. Nat. Genet. 2003, 35:131-138.
61. Wu C., Hu Z., He Z., Jia W., Wang F., Zhou Y., Liu Z., Zhan Q., Liu Y., Yu D., Zhai K., Chang J., Qiao Y., Jin G., Liu Z., Shen Y., Guo C., Fu J., Miao X., Tan W., Shen H., Ke Y., Zeng Y., Wu T., Lin D. Nat. Genet. 2011, 43:679-684.
62. Michot C., Le Goff C., Goldenberg A., Abhyankar A., Klein C., Kinning E., Guerrot A.M., Flahaut P., Duncombe A., Baujat G., Lyonnet S., Thalassinos C., Nitschke P., Casanova J.L., Le Merrer M., Munnich A., Cormier-Daire V. Am. J. Hum. Genet. 2012, 90:740-745.
63. Lee H., Graham J.M., Rimoin D.L., Lachman R.S., Krejci P., Tompson S.W., Nelson S.F., Krakow D., Cohn D.H. Am. J. Hum. Genet. 2012, 90:746-751.
64. Kirschner L.S., Carney J.A., Pack S.D., Taymans S.E., Giatzakis C., Cho Y.S., Cho-Chung Y.S., Stratakis C.A. Nat. Genet. 2000, 26:89-92.
65. Houslay M.D. Prog. Nucleic Acid Res. Mol. Biol. 2001, 69:249-315.
66. Rena G., Begg F., Ross A., MacKenzie C., McPhee I., Campbell L., Huston E., Sullivan M., Houslay M.D. Mol. Pharmacol. 2001, 59:996-1011.
67. Sullivan M., Olsen A.S., Houslay M.D. Cell. Signal. 1999, 11:735-742.
68. Owens R.J., Lumb S., Rees-Milton K., Russell A., Baldock D., Lang V., Crabbe T., Ballesteros M., Perry M.J. Cell. Signal. 1997, 9:575-585.
69. Wakabayashi S., Tsutsumimoto T., Kawasaki S., Kinoshita T., Horiuchi H., Takaoka K. J. Bone Miner. Res. 2002, 17:249-256.
70. Neves S.R., Ram P.T., Iyengar R. Science 2002, 296:1636-1639.
71. Jin S.L., Richard F.J., Kuo W.P., D'Ercole A.J., Conti M. Proc. Natl. Acad. Sci. U. S. A. 1999, 96:11998-12003.
72. Henderson D.J., Byrne A., Dulla K., Jenster G., Hoffmann R., Baillie G.S., Houslay M.D. Br. J. Cancer 2014, 110:1278-1287.
73. Sheppard C.L., Lee L.C., Hill E.V., Henderson D.J., Anthony D.F., Houslay D.M., Yalla K.C., Cairns L.S., Dunlop A.J., Baillie G.S., Huston E., Houslay M.D. Cell. Signal. 2014, 26:1958-1974.