Erratum: Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome-like skeletal defects induced by Pdk1 or Cbp mutations in mice (Journal of Clinical Investigation (2012) 122, 1 (91-106) DOI: 10.1172/JCI59466);Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome-like skeletal defects induced by Pdk1 or Cbp mutations in mice

Journal of Clinical Investigation

Volumn 122, Issue 1, 2012, Pages 91-106

  Shim, Jae Hyuck ^a   Greenblatt, Matthew B ^a,b   Singh, Anju ^a   Brady, Nicholas ^a   Hu, Dorothy ^a   Drapp, Rebecca ^a   Ogawa, Wataru ^c   Kasuga, Masato ^d   Noda, Tetsuo ^e   Yang, Sang Hwa ^f   Lee, Sang Kyou ^f   Rebel, Vivienne I ^g   Glimcher, Laurie H ^a,b  

^a HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

^e CANCER INSTITUTE   (Japan)

^f Yonsei University   (South Korea)

^g Mays Cancer Center at UT Health San Antonio   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; GROWTH FACTOR; MUTANT PROTEIN; OSTEOGENIC PROTEIN 1; PHOSPHOINOSITIDE DEPENDENT PROTEIN KINASE 1; PROTEIN KINASE B INHIBITOR; TRANSCRIPTION FACTOR RUNX2;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE INTERACTION; HETEROZYGOTE; HUMAN; HUMAN CELL; IN VIVO STUDY; MOUSE; NONHUMAN; OSSIFICATION; OSTEOBLAST; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RUBINSTEIN SYNDROME; SKELETON MALFORMATION;

EID: 84855464261     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI63413     Document Type: Erratum

References (68)

1. Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963;105:588-608.
2. Stevens CA. Patellar dislocation in Rubenstein-Taybi syndrome. Am J Med Genet. 1997;72(2):188-190.
3. Bloch-Zupan A, Stachtou J, Emmanouil D, Arveiler B, Griffiths D, Lacombe D. Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. Am J Med Genet A. 2007;143(6):570-573. (Pubitemid 46348897)
4. Breuning MH, et al. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet. 1993;52(2):249-254. (Pubitemid 23072406)
5. Petrij F, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 1995;376(6538):348-351.
6. Wang J, et al. CBP histone acetyltransferase activity regulates embryonic neural differentiation in the normal and Rubinstein-Taybi syndrome brain. Dev Cell. 2010;18(1):114-125.
7. +/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron. 2004;42(6):947-959.
8. Tanaka Y, Naruse I, Maekawa T, Masuya H, Shiroishi T, Ishii S. Abnormal skeletal patterning in embryos lacking a single Cbp allele: a partial similarity with Rubinstein-Taybi syndrome. Proc Natl Acad Sci U S A. 1997;94(19):10215- 10220. (Pubitemid 27407021)
9. Oike Y, et al. Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. Hum Mol Genet. 1999;8(3):387-396. (Pubitemid 29097326)
10. Chrivia JC, Kwok RP, Lamb N, Hagiwara M, Montminy MR, Goodman RH. Phosphorylated CREB binds specifically to the nuclear protein CBP. Nature. 1993;365(6449):855-859. (Pubitemid 23341031)
11. Du K, Montminy M. CREB is a regulatory target for the protein kinase Akt/PKB. J Biol Chem. 1998;273(49):32377-32379. (Pubitemid 28557606)
12. Nakajima T, et al. The signal-dependent coactivator CBP is a nuclear target for pp90RSK. Cell. 1996;86(3):465-474. (Pubitemid 26272086)
13. Perkins ND, Felzien LK, Betts JC, Leung K, Beach DH, Nabel GJ. Regulation of NF-kappaB by cyclindependent kinases associated with the p300 coactivator. Science. 1997;275(5299):523-527. (Pubitemid 27051906)
14. Langlois JA, et al. Association between insulin-like growth factor I and bone mineral density in older women and men: the Framingham Heart Study. J Clin Endocrinol Metab. 1998;83(12):4257-4262. (Pubitemid 29100118)
15. Turner CH, et al. Genetic regulation of cortical and trabecular bone strength and microstructure in inbred strains of mice. J Bone Miner Res. 2000;15(6):1126-1131. (Pubitemid 30350075)
16. Kawai M, Rosen CJ. Insulin-like growth factor-I and bone: lessons from mice and men. Pediatr Nephrol. 2009;24(7):1277-1285.
17. Ferron M, et al. Insulin signaling in osteoblasts integrates bone remodeling and energy metabolism. Cell. 2010;142(2):296-308.
18. Fulzele K, et al. Insulin receptor signaling in osteoblasts regulates postnatal bone acquisition and body composition. Cell. 2010;142(2):309-319.
19. Ogata N, et al. Insulin receptor substrate-1 in osteoblast is indispensable for maintaining bone turnover. J Clin Invest. 2000;105(7):935-943. (Pubitemid 30203066)
20. Akune T, et al. Insulin receptor substrate-2 maintains predominance of anabolic function over catabolic function of osteoblasts. J Cell Biol. 2002;159(1):147-156. (Pubitemid 35191526)
21. Liu JP, Baker J, Perkins AS, Robertson EJ, Efstratiadis A. Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell. 1993;75(1):59-72. (Pubitemid 23306021)
22. Peng XD, et al. Dwarfism, impaired skin development, skeletal muscle atrophy, delayed bone development, and impeded adipogenesis in mice lacking Akt1 and Akt2. Genes Dev. 2003;17(11):1352-1365.
23. Lawlor MA, et al. Essential role of PDK1 in regulating cell size and development in mice. EMBO J. 2002;21(14):3728-3738. (Pubitemid 34787046)
24. Inoue H, et al. Role of hepatic STAT3 in brain-insulin action on hepatic glucose production. Cell Metab. 2006;3(4):267-275.
25. Rodda SJ, McMahon AP. Distinct roles for Hedgehog and canonical Wnt signaling in specification, differentiation and maintenance of osteoblast progenitors. Development. 2006;133(16):3231-3244. (Pubitemid 44404346)
26. Bartsch O, et al. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet A. 2010;152A(1):181-184.
27. Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet. 1999;36(3):177-182. (Pubitemid 29110444)
28. Hennekam RC, Stevens CA, Van de Kamp JJ. Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Suppl. 1990;6:56-64. (Pubitemid 20285172)
29. Li L, Cserjesi P, Olson EN. Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis. Dev Biol. 1995;172(1):280-292.
30. Chan CK, et al. Endochondral ossification is required for haematopoietic stem-cell niche formation. Nature. 2009;457(7228):490-494.
31. Fujita T, et al. Runx2 induces osteoblast and chondrocyte differentiation and enhances their migration by coupling with PI3K-Akt signaling. J Cell Biol. 2004;166(1):85-95. (Pubitemid 38931919)
32. Kawamura N, et al. Akt1 in osteoblasts and osteoclasts controls bone remodeling. PLoS One. 2007;2(10):e1058.
33. Mukherjee A, Rotwein P. Akt promotes BMP2-mediated osteoblast differentiation and bone development. J Cell Sci. 2009;122(pt 5):716-726.
34. Mukherjee A, Wilson EM, Rotwein P. Selective signaling by Akt2 promotes bone morphogenetic protein 2-mediated osteoblast differentiation. Mol Cell Biol. 2010;30(4):1018-1027.
35. Pearce LR, Komander D, Alessi DR. The nuts and bolts of AGC protein kinases. Nat Rev Mol Cell Biol. 2010;11(1):9-22.
36. Williams MR, et al. The role of 3-phosphoinositide-dependent protein kinase 1 in activating AGC kinases defined in embryonic stem cells. Curr Biol. 2000;10(8):439-448. (Pubitemid 30247331)
37. Fulzele K, et al. Insulin receptor signaling in osteoblasts regulates postnatal bone acquisition and body composition. Cell. 2010;142(2):309-319.
38. Li XY, Zhan XR, Liu XM, Wang XC. CREB is a regulatory target for the protein kinase Akt/PKB in the differentiation of pancreatic ductal cells into islet beta-cells mediated by hepatocyte growth factor. Biochem Biophys Res Commun. 2011;404(2):711-716.
39. Kato S, Ding J, Du K. Differential activation of CREB by Akt1 and Akt2. Biochem Biophys Res Commun. 2007;354(4):1061-1066. (Pubitemid 46216243)
40. Cross DA, Alessi DR, Cohen P, Andjelkovich M, Hemmings BA. Inhibition of glycogen synthase kinase-3 by insulin mediated by protein kinase B. Nature. 1995;378(6559):785-789. (Pubitemid 26004411)
41. Ruvinsky I, et al. Ribosomal protein S6 phosphorylation is a determinant of cell size and glucose homeostasis. Genes Dev. 2005;19(18):2199-2211. (Pubitemid 41330321)
42. Rudolph D, Tafuri A, Gass P, Hammerling GJ, Arnold B, Schutz G. Impaired fetal T cell development and perinatal lethality in mice lacking the cAMP response element binding protein. Proc Natl Acad Sci U S A. 1998;95(8):4481- 4486. (Pubitemid 28207938)
43. Bleckmann SC, Blendy JA, Rudolph D, Monaghan AP, Schmid W, Schutz G. Activating transcription factor 1 and CREB are important for cell survival during early mouse development. Mol Cell Biol. 2002;22(6):1919-1925. (Pubitemid 34175006)
44. Golan I, et al. Atypical expression of cleidocranial dysplasia: clinical and molecular-genetic analysis. Orthod Craniofac Res. 2002;5(4):243-249.
45. Barco A, et al. Gene expression profiling of facilitated L-LTP in VP16-CREB mice reveals that BDNF is critical for the maintenance of LTP and its synaptic capture. Neuron. 2005;48(1):123-137. (Pubitemid 41384170)
46. Ahn S, Olive M, Aggarwal S, Krylov D, Ginty DD, Vinson C. A dominant-negative inhibitor of CREB reveals that it is a general mediator of stimulus-dependent transcription of c-fos. Mol Cell Biol. 1998;18(2):967-977. (Pubitemid 28063431)
47. Tsuji K, et al. BMP2 activity, although dispensable for bone formation, is required for the initiation of fracture healing. Nat Genet. 2006;38(12):1424-1429. (Pubitemid 44837565)
48. Zhang R, et al. Transcriptional regulation of BMP2 expression by the PTH-CREB signaling pathway in osteoblasts. PLoS One. 2011;6(6):e20780.
49. Ghosh-Choudhury N, et al. Autoregulation of mouse BMP-2 gene transcription is directed by the proximal promoter element. Biochem Biophys Res Commun. 2001;286(1):101-108. (Pubitemid 32917655)
50. Zhang R, et al. Transcriptional regulation of BMP2 expression by the PTH-CREB signaling pathway in osteoblasts. PLoS One. 2011;6(6):e20780.
51. Wozney JM, et al. Novel regulators of bone formation: molecular clones and activities. Science. 1988;242(4885):1528-1534. (Pubitemid 19023695)
52. Celeste AJ, et al. Identification of transforming growth factor beta family members present in bone-inductive protein purified from bovine bone. Proc Natl Acad Sci U S A. 1990;87(24):9843-9847. (Pubitemid 120016540)
53. Turgeman G, et al. Systemically administered rhBMP-2 promotes MSC activity and reverses bone and cartilage loss in osteopenic mice. J Cell Biochem. 2002;86(3):461-474. (Pubitemid 36076164)
54. Israel DI, et al. Heterodimeric bone morphogenetic proteins show enhanced activity in vitro and in vivo. Growth Factors. 1996;13(3-4):291-300. (Pubitemid 26378947)
55. Borovecki F, Jelic M, Grgurevic L, Sampath KT, Bosukonda D, Vukicevic S. Bone morphogenetic protein-7 from serum of pregnant mice is available to the fetus through placental transfer during early stages of development. Nephron Exp Nephrol. 2004;97(1):e26-32.
56. Kung AL, et al. Gene dose-dependent control of hematopoiesis and hematologic tumor suppression by CBP. Genes Dev. 2000;14(3):272-277. (Pubitemid 30106482)
57. Giles RH, Peters DJ, Breuning MH. Conjunction dysfunction: CBP/p300 in human disease. Trends Genet. 1998;14(5):178-183. (Pubitemid 28244241)
58. Roelfsema JH, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005;76(4):572-580. (Pubitemid 40432165)
59. Hennekam RC, et al. Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. Am J Hum Genet. 1993;52(2):255-262. (Pubitemid 23072407)
60. Choi KY, et al. Runx2 regulates FGF2-induced Bmp2 expression during cranial bone development. Dev Dyn. 2005;233(1):115-121.
61. Bialek P, et al. A twist code determines the onset of osteoblast differentiation. Dev Cell. 2004;6(3):423-435. (Pubitemid 38364573)
62. Ferron M, et al. Insulin signaling in osteoblasts integrates bone remodeling and energy metabolism. Cell. 2010;142(2):296-308.
63. Gaide O, Schneider P. Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Nat Med. 2003;9(5):614-618. (Pubitemid 36597109)
64. Mundlos S, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell. 1997;89(5):773-779. (Pubitemid 27516180)
65. McLeod MJ. Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology. 1980;22(3):299-301. (Pubitemid 11209786)
66. Hildebrand T, Ruegsegger P. Quantification of bone microarchitecture with the Structure Model Index. Comput Methods Biomech Biomed Engin. 1997;1(1):15-23.
67. Greenblatt MB, et al. The p38 MAPK pathway is essential for skeletogenesis and bone homeostasis in mice. J Clin Invest. 2010;120(7):2457- 2473.
68. Jones DC, Wein MN, Oukka M, Hofstaetter JG, Glimcher MJ, Glimcher LH. Regulation of adult bone mass by the zinc finger adapter protein Schnurri-3. Science. 2006;312(5777):1223-1227. (Pubitemid 43801150)