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Volumn 106, Issue 46, 2009, Pages 19250-19255

A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle

Author keywords

Achondroplasic dwarfism; BTA6; cGKII; Recessive genetic disease

Indexed keywords

ARGININE; CYCLIC GMP DEPENDENT PROTEIN KINASE; CYCLIC GMP DEPENDENT PROTEIN KINASE TYPE II; UNCLASSIFIED DRUG; CGMP DEPENDENT PROTEIN KINASE II; CGMP-DEPENDENT PROTEIN KINASE II; COLLAGEN TYPE 10; COLLAGEN TYPE 2; MESSENGER RNA;

EID: 73349097595     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0904513106     Document Type: Article
Times cited : (47)

References (29)
  • 2
    • 0029935895 scopus 로고    scopus 로고
    • Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
    • Naski MC, Wang Q, Xu J, Ornitz DM (1996) Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet 13:233-237.
    • (1996) Nat Genet , vol.13 , pp. 233-237
    • Naski, M.C.1    Wang, Q.2    Xu, J.3    Ornitz, D.M.4
  • 3
    • 0041704639 scopus 로고    scopus 로고
    • Mutations in the limbin gene previously associated with dwarfism in Japanese brown cattle are not responsible for dwarfism in the American Angus breed
    • Mishra BP, Reecy JM (2003) Mutations in the limbin gene previously associated with dwarfism in Japanese brown cattle are not responsible for dwarfism in the American Angus breed. Anim Genet 34:311-312.
    • (2003) Anim Genet , vol.34 , pp. 311-312
    • Mishra, B.P.1    Reecy, J.M.2
  • 5
    • 0036678832 scopus 로고    scopus 로고
    • Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism
    • Takeda H, et al. (2002) Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism. Proc Natl Acad Sci USA 99:10549-10554.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 10549-10554
    • Takeda, H.1
  • 6
    • 36349019717 scopus 로고    scopus 로고
    • Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN
    • Cavanagh JA, et al. (2007) Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN. Mamm Genome 18:808-814.
    • (2007) Mamm Genome , vol.18 , pp. 808-814
    • Cavanagh, J.A.1
  • 7
    • 4644287296 scopus 로고    scopus 로고
    • Cyclic GMP-dependent protein kinase II is a molecular switch from proliferation to hypertrophic differentiation of chondrocytes
    • Chikuda H, et al. (2004) Cyclic GMP-dependent protein kinase II is a molecular switch from proliferation to hypertrophic differentiation of chondrocytes. Genes Dev 18:2418-2429.
    • (2004) Genes Dev , vol.18 , pp. 2418-2429
    • Chikuda, H.1
  • 8
    • 0031473847 scopus 로고    scopus 로고
    • SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling
    • Guex N, Peitsch MC (1997) SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling. Electrophoresis 18:2714-2723.
    • (1997) Electrophoresis , vol.18 , pp. 2714-2723
    • Guex, N.1    Peitsch, M.C.2
  • 9
    • 0042622380 scopus 로고    scopus 로고
    • SWISS-MODEL: An automated protein homology-modeling server
    • Schwede T, Kopp J, Guex N, Peitsch MC (2003) SWISS-MODEL: An automated protein homology-modeling server. Nucleic Acids Res 31:3381-3385.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3381-3385
    • Schwede, T.1    Kopp, J.2    Guex, N.3    Peitsch, M.C.4
  • 10
    • 31444450085 scopus 로고    scopus 로고
    • Cyclic guanosine 5′-monophosphate-dependent protein kinase II is induced by luteinizing hormone and progesterone receptor-dependent mechanisms in granulosa cells and cumulus oocyte complexes of ovulating follicles
    • Sriraman V, Rudd MD, Lohmann SM, Mulders SM, Richards JS (2006) Cyclic guanosine 5′-monophosphate-dependent protein kinase II is induced by luteinizing hormone and progesterone receptor-dependent mechanisms in granulosa cells and cumulus oocyte complexes of ovulating follicles. Mol Endocrinol 20:348-361.
    • (2006) Mol Endocrinol , vol.20 , pp. 348-361
    • Sriraman, V.1    Rudd, M.D.2    Lohmann, S.M.3    Mulders, S.M.4    Richards, J.S.5
  • 11
    • 0030452310 scopus 로고    scopus 로고
    • Intestinal secretory defects and dwarfism in mice lacking cGMP-dependent protein kinase II
    • Pfeifer A, et al. (1996) Intestinal secretory defects and dwarfism in mice lacking cGMP-dependent protein kinase II. Science 274:2082-2086.
    • (1996) Science , vol.274 , pp. 2082-2086
    • Pfeifer, A.1
  • 12
    • 33644834949 scopus 로고    scopus 로고
    • Function of cGMP-dependent protein kinases as revealed by gene deletion
    • Hofmann F, Feil R, Kleppisch T, Schlossmann J (2006) Function of cGMP-dependent protein kinases as revealed by gene deletion. Physiol Rev 86:1-23.
    • (2006) Physiol Rev , vol.86 , pp. 1-23
    • Hofmann, F.1    Feil, R.2    Kleppisch, T.3    Schlossmann, J.4
  • 13
    • 21344459059 scopus 로고    scopus 로고
    • Molecular properties and biological functions of cGMP-dependent protein kinase II
    • Vaandrager AB, Hogema BM, de Jonge HR (2005) Molecular properties and biological functions of cGMP-dependent protein kinase II. Front Biosci 10:2150-2164.
    • (2005) Front Biosci , vol.10 , pp. 2150-2164
    • Vaandrager, A.B.1    Hogema, B.M.2    de Jonge, H.R.3
  • 14
    • 0031041098 scopus 로고    scopus 로고
    • Guanosine 3′,5′- cyclic monophosphate-dependent protein kinase II mediates heat-stable enterotoxin-provoked chloride secretion in rat intestine
    • Vaandrager AB, Bot AG, de Jonge HR (1997) Guanosine 3′,5′- cyclic monophosphate-dependent protein kinase II mediates heat-stable enterotoxin-provoked chloride secretion in rat intestine. Gastroenterology 112:437-443.
    • (1997) Gastroenterology , vol.112 , pp. 437-443
    • Vaandrager, A.B.1    Bot, A.G.2    de Jonge, H.R.3
  • 15
    • 0033976962 scopus 로고    scopus 로고
    • Differential role of cyclic GMP-dependent protein kinase II in ion transport in murine small intestine and colon
    • Vaandrager AB, et al. (2000) Differential role of cyclic GMP-dependent protein kinase II in ion transport in murine small intestine and colon. Gastroenterology 118:108-114.
    • (2000) Gastroenterology , vol.118 , pp. 108-114
    • Vaandrager, A.B.1
  • 16
    • 0031755355 scopus 로고    scopus 로고
    • Nitric oxide regulates cyclic GMP-dependent protein kinase phosphorylation in rat brain
    • El-Husseini AE, Bladen C, Williams JA, Reiner PB, Vincent SR (1998) Nitric oxide regulates cyclic GMP-dependent protein kinase phosphorylation in rat brain. J Neurochem 71:676-683.
    • (1998) J Neurochem , vol.71 , pp. 676-683
    • El-Husseini, A.E.1    Bladen, C.2    Williams, J.A.3    Reiner, P.B.4    Vincent, S.R.5
  • 17
    • 0038371139 scopus 로고    scopus 로고
    • cGMP-dependent protein kinase II modulates mPer1 and mPer2 gene induction and influences phase shifts of the circadian clock
    • Oster H, et al. (2003) cGMP-dependent protein kinase II modulates mPer1 and mPer2 gene induction and influences phase shifts of the circadian clock. Curr Biol 13:725-733.
    • (2003) Curr Biol , vol.13 , pp. 725-733
    • Oster, H.1
  • 18
    • 0033615638 scopus 로고    scopus 로고
    • Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II
    • Scherer-Oppliger T, Leimbacher W, Blau N, Thony B (1999) Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II. J Biol Chem 274:31341-31348.
    • (1999) J Biol Chem , vol.274 , pp. 31341-31348
    • Scherer-Oppliger, T.1    Leimbacher, W.2    Blau, N.3    Thony, B.4
  • 19
    • 10944220561 scopus 로고    scopus 로고
    • Importance of NO/cGMP signalling via cGMP-dependent protein kinase II for controlling emotionality and neurobehavioural effects of alcohol
    • Werner C, et al. (2004) Importance of NO/cGMP signalling via cGMP-dependent protein kinase II for controlling emotionality and neurobehavioural effects of alcohol. Eur J Neurosci 20:3498-3506.
    • (2004) Eur J Neurosci , vol.20 , pp. 3498-3506
    • Werner, C.1
  • 20
    • 28844440831 scopus 로고    scopus 로고
    • cGMP may have trophic effects on beta cell function comparable to those of cAMP, implying a role for high-dose biotin in prevention/treatment of diabetes
    • McCarty MF (2006) cGMP may have trophic effects on beta cell function comparable to those of cAMP, implying a role for high-dose biotin in prevention/treatment of diabetes. Med Hypotheses 66:323-328.
    • (2006) Med Hypotheses , vol.66 , pp. 323-328
    • McCarty, M.F.1
  • 21
    • 29444452429 scopus 로고    scopus 로고
    • A high-resolution whole-genome cattle-human comparative map reveals details of mammalian chromosome evolution
    • Everts-van der Wind A, et al. (2005) A high-resolution whole-genome cattle-human comparative map reveals details of mammalian chromosome evolution. Proc Natl Acad Sci USA 102:18526-18531.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 18526-18531
    • Everts-van der Wind, A.1
  • 22
    • 73949143214 scopus 로고    scopus 로고
    • BEAP: The BLAST Extension and Alignment Program - a tool for contig construction and analysis of preliminary genome sequence
    • Koltes JE, Hu Z-L, Fritz E, Reecy JM (2009) BEAP: The BLAST Extension and Alignment Program - a tool for contig construction and analysis of preliminary genome sequence. BMC Res Notes 2:11.
    • (2009) BMC Res Notes , vol.2 , pp. 11
    • Koltes, J.E.1    Hu, Z.-L.2    Fritz, E.3    Reecy, J.M.4
  • 24
    • 0015183542 scopus 로고
    • A general model for the genetic analysis of pedigree data
    • Elston RC, Stewart J (1971) A general model for the genetic analysis of pedigree data. Hum Hered 21:523-542.
    • (1971) Hum Hered , vol.21 , pp. 523-542
    • Elston, R.C.1    Stewart, J.2
  • 26
    • 0036423246 scopus 로고    scopus 로고
    • Irreducibility and efficiency of ESIP to sample marker genotypes in large pedigrees with loops
    • Fernandez SA, et al. (2002) Irreducibility and efficiency of ESIP to sample marker genotypes in large pedigrees with loops. Genet Sel Evol 34:537-555.
    • (2002) Genet Sel Evol , vol.34 , pp. 537-555
    • Fernandez, S.A.1
  • 27
    • 0016302483 scopus 로고
    • Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies
    • Ott J (1974) Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:588-597.
    • (1974) Am J Hum Genet , vol.26 , pp. 588-597
    • Ott, J.1
  • 28
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    • Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25:402-408.
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.