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bone morphogenetic protein 7 a


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GeneName bmp7a
Aliases ENSDARG:ENSDARG00000018260; fb83f09; wu:fb83f09; bmp7
Description bone morphogenetic protein 7 a
GenomicLocation chromosome 11 7194747-7226326 reverse strand
ExternalIDs Entrez:30584; EMBL:DQ781316; UniGene:77644; ZFIN:ZDB-GENE-000208-25;
TranscriptID ENSDART:ENSDART00000016472; ENSDART:ENSDART00000143942;
mRNA NCBI:NM_131321
GeneDescription Bmp7 is known to play important role in early development stages.
GeneFunction Dick et al.(1999) reported that zebrafish Bmp7 is disrupted in snailhouse (snh) mutants. The allele snhst1 is a translocation deleting the bmp7 gene, while snhty68 displays a Val-Gly exhange in a conserved motif of the Bmp7 prodomain. The snhty68 mutation is temperature-sensitive, leading to severalfold reduced activity of mutant Bmp7 at 28°C and non-detectable activity at 33°C. This prodomain lesion affects secretion and/or stability of secreted mature Bmp7 after processing has occurred. Both snhst1 and snhty68 mutant zebrafish embryos are strongly dorsalized, indicating that bmp7 is required for the specification of ventral cell fates during early dorsoventral patterning. Bauer et al.(2001) suggested that Alk8 acts as a Bmp2b/7 receptor upstream of Smad5. bmp7/snailhouse mutants zygotic effect of mutations leads to dorsalization of intermediate strength. A much stronger dorsalization, similar to that of bmp2b/swirl.Mowbray et al.(2001) studied expression of bmp7 in the developing zebrafish's inner ear using in situ hybridisation. bmp7 expression is concentrated in a single posterior domain from 24 to 38 hpf , with weak expression in the ventral epithelium at 24 and 27 hpf. Paulian et al.(2006) analyzed how the FGF and BMP pathways (bmp7) interact with Nodal signalling during the process of endoderm formation and found that activation of the FGF/ERK pathway disrupts endoderm formation in the embryo and antagonizes the ability of an activated form of Tar/Acvr1b to induce endoderm at the animal pole. Over expression of BMPs compromises endoderm formation, suggesting that formation of endoderm precursors is negatively regulated by BMPs on the ventral side.
GeneCloning Dick et al.(1999) cloned of zebrafish bmp7. A subtractive cDNA library, enriched in ventral-specific gene products, was generated by preparing a pool of cDNAs from swirl/bmp2b mutant embryos at the tailbud stage, and subtracting it from a pool of cDNAs derived from their wild-type siblings.
GeneStructure This gene encodes for 2 transcripts.The transcript ENSDART00000016472 consists of 7 exons and is 3.206 bps in length. The protein product ENSDARP00000017352 consists of 432 residues.The transcript ENSDART00000143942 consists of 6 exons and is 1.264 bps in length. The protein product ENSDARP00000115518 consists of 296 residues
Protein ENSDARP00000017352 ENSDARP00000115518
ProteinDomainandFamilies has domain InterPro:IPR001111; InterPro:IPR001839; InterPro:IPR015615; InterPro:IPR017948;
Motifs has motif Prosite:PS00250; PFAM:PF00019; PFAM:PF00688;
Expression ArrayExpress:ENSDARG00000018260;
GeneOntology GO:0048264; GO:0040007; GO:0042664; GO:0035050; GO:0007368; GO:0009953; GO:0030509; GO:0008083;
Orthologs Entrez:655;
VariationAndRepeats RSID:rs180123880; RSID:rs180123880; RSID:rs180123879; RSID:rs180123879; RSID:rs180123878; RSID:rs180123878; RSID:rs180123877; RSID:rs180123877; RSID:rs180123875; RSID:rs180123875; RSID:rs180123874; RSID:rs180123874; RSID:rs180123873; RSID:rs180123873; RSID:rs179813490; RSID:rs179813490; RSID:rs179813510; RSID:rs179813510; RSID:rs179813494; RSID:rs179813494; RSID:rs179813451; RSID:rs179813451; RSID:rs179813484; RSID:rs179813484; RSID:rs179813454; RSID:rs179813454; RSID:rs179813487; RSID:rs179813487; RSID:rs179813447; RSID:rs179813447; RSID:rs179813507; RSID:rs179813507; RSID:rs179813450; RSID:rs179813450; RSID:rs179813461; RSID:rs179813461; RSID:rs179813476; RSID:rs179813476; RSID:rs179813466; RSID:rs179813466; RSID:rs179813479; RSID:rs179813479; RSID:rs179813500; RSID:rs179813500; RSID:rs179813491; RSID:rs179813491; RSID:rs179813481; RSID:rs179813481; RSID:rs179813453; RSID:rs179813453; RSID:rs179813448; RSID:rs179813448; RSID:rs179813482; RSID:rs179813482; RSID:rs179813473; RSID:rs179813473; RSID:rs179813480; RSID:rs179813480; RSID:rs179813457; RSID:rs179813457; RSID:rs179813508; RSID:rs179813508; RSID:rs179813502; RSID:rs179813502; RSID:rs179813486; RSID:rs179813486; RSID:rs179813458; RSID:rs179813458; RSID:rs179813493; RSID:rs179813493; RSID:rs179813496; RSID:rs179813496; RSID:rs179813506; RSID:rs179813506; RSID:rs179813465; RSID:rs179813465; RSID:rs179813470; RSID:rs179813470; RSID:rs179813475; RSID:rs179813475; RSID:rs179813460; RSID:rs179813460; RSID:rs179813511; RSID:rs179813511; RSID:rs179813464; RSID:rs179813464; RSID:rs179813459; RSID:rs179813459; RSID:rs179813497; RSID:rs179813497; RSID:rs179813499; RSID:rs179813499; RSID:rs179813472; RSID:rs179813472; RSID:rs179813463; RSID:rs179813463; RSID:rs179813468; RSID:rs179813468; RSID:rs179813474; RSID:rs179813474; RSID:rs179813489; RSID:rs179813489; RSID:rs179813462; RSID:rs179813462; RSID:rs179813495; RSID:rs179813495; RSID:rs179813503; RSID:rs179813503; RSID:rs179813488; RSID:rs179813488; RSID:rs179813449; RSID:rs179813449; RSID:rs179813485; RSID:rs179813485; RSID:rs179813456; RSID:rs179813456; RSID:rs179813469; RSID:rs179813469; RSID:rs179813467; RSID:rs179813467; RSID:rs179813471; RSID:rs179813471; RSID:rs179813477; RSID:rs179813477; RSID:rs179813492; RSID:rs179813492; RSID:rs180123872; RSID:rs180123871
DisordersAndMutations Schmid et al.(2000) showed the essence of bone morphogenetic protein (BMP) signaling pathway in the establishment of the dorsoventral axis of the vertebrate embryo and also demonstrated the genetic requirement for two different Bmp ligand subclass genes for dorsoventral pattern formation of the zebrafish embryo. From the relative efficiencies observed in Bmp ligand rescue experiments, conserved chromosomal synteny, and isolation of the zebrafish bmp7 gene and determined that the strongly dorsalized snailhouse mutant phenotype is caused by a mutation in the bmp7 gene.It was shown that the original snailhouse allele is a hypomorphic mutation and they have identified a snailhouse/bmp7 null mutant.Imai et al.(2001) reported snailhouse mutants bmp7. In zebrafish, mutations in bmp7/snailhouse genes produce dorsalized embryos in which paraxial mesoderm and the neural plate are expanded at the expense of ventral structures, demonstrating bmp7/ snailhouse are required for specification of ventral cell fates.Holzschuh et al .2005 (Morpholino studies) used morpholino oligomers to target the translation start sites of bmp7 (snailhouse mutants) in Zebrafish.
RelatedPubMedArticles Dick,A.; Hild, M.; Bauer, H.; Imai, Y.; Maifeld, H.; Schier, A.F.; Talbot, W.S.;Bouwmeester,T.;Hammerschmidt,M.:Essential role of Bmp7 (snailhouse) and its prodomain in dorsoventral patterning of the zebrafish embryo. Development. ;127(2):343-54,2000. PMID:10603351 Schmid,B.; Fürthauer, M.; Connors,S.A.; Trout, J.; Thisse, B.; Thisse,C.; Mullins,M.C.:Equivalent genetic roles for bmp7/snailhouse and bmp2b/swirl in dorsoventral pattern formation. Development;127(5):957-67.2000. PMID:10662635 Imai,Y.; Talbot,W.S.:Morpholino phenocopies of the bmp2b/swirl and bmp7/snailhouse mutations. Genesis;30(3):160-3,2001. PMID:11477698 Mowbray,C.; Hammerschmidt, M.; Whitfield,T.T.:Expression of BMP signalling pathway members in the developing zebrafish inner ear and lateral line. Mech Dev;108(1-2):179-84,2001. PMID:11578872 Bauer,H.;Lele, Z.; Rauch,G.J.; Geisler, R.; Hammerschmidt,M.:The type I serine/threonine kinase receptor Alk8/Lost-a-fin is required for Bmp2b/7 signal transduction during dorsoventral patterning of the zebrafish embryo. Development. M128(6):849-58,2001 . PMID:11222140 Holzschuh,J.; Wada,N.;Wada,C.;Schaffer,A.;Javidan,Y.; Tallafuss,A.;Bally-Cuif,L.;Schilling,T.F.: Requirements for endoderm and BMP signaling in sensory neurogenesis in zebrafish. Development;132(16):3731-42,2005. PMID:16077092 Poulain,M.; Fürthauer, M.; Thisse, B.; Thisse,C.; Lepage,T.: Zebrafish endoderm formation is regulated by combinatorial Nodal, FGF and BMP signalling. Development. ;133(11):2189-200,2006. Epub 2006. PMID:16672336 Shawi, M.; Serluca ,F.C.:Identification of a BMP7 homolog in zebrafish expressed in developing organ systems. Gene Expr Patterns;8(6):369-75,2008. Epub 2008 May 28. PMID:18602348 NCBI Resource Coordinators.: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 41(Database issue):D8-D20. 2013. PMID:23193264
Kersey, P. J.; Allen, J. E.; Christensen, M.; et al.: Ensembl Genomes 2013: scaling up access to genome-wide data. Nucleic Acids Res. 2013. PMID:24163254
Sigrist, C. J. A.; de, Castro, E; Cerutti, L; Cuche, B. A.; Hulo, N.; Bridge, A.; Bougueleret, L. Xenarios, I.: New and continuing developments at PROSITE. Nucleic Acids Res. doi: 10.1093/nar/gks1067. 2012. PMID:23161676
Punta, M.; Coggill, P. C.; Eberhardt, et al.: The Pfam protein families database. Nucleic Acids Res. 40(Database Issue):D290-D301. 2012. PMID:22127870
Hunter, S.; Jones P.; Mitchell A.; et al.: Interpro in 2011: new developments in the family and domain prediction database. Nucleic Acids Res. doi: 10.1093/nar/gkr948. 2011. PMID:22096229
Carbon, S.; Ireland, A.; Mungall, C. J.; Shu, S.; Marshall, B.; Lewis, S.; AMIGO Hub; Web Presence Working Group.: AMIGO: online access to ontology and annotation data. Bioinformatics. 25(2):288-9. 2009. PMID:19033274
Ashburner, M.; Ball, C. A.; Blake, J. A.; et al. The Gene Ontology Consortium.: Gene ontology: tool for the unification of biology. Nat. Genet. 25(1):25-9. 2000. PMID:10802651
Sherry, S. T.; Ward, M. H.; Kholodov, M.; Baker, J.; Phan, L.; Smigielski, E. M.; Sirotkin, K.: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 1;29(1):308-11. 2001. PMID:11125122
Bradford, Y.; Conlin, T.; Dunn, N.; et al.: ZFIN: enhancements and updates to the zebrafish model organism database. Nucleic Acids Res. 39(suppl 1):D822-D829. 2011. PMID:21036866
Kapushesky, M.; Adamusiak, T.; Burdett, T.; et al.: Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments. Nucleic Acids Res. 40(Database isue):D1077-81. 2012. PMID:22064864

Web resources:
NCBI: http://www.ncbi.nlm.nih.gov/
PFAM: http://pfam.sanger.ac.uk/
PROSITE: http://prosite.expasy.org/
Interpro: http://www.ebi.ac.uk/interpro/
ZFIN: http://zfin.org/
Expression Atlas (EMBL): http://www.ebi.ac.uk/gxa/
Ensembl: http://asia.ensembl.org/Danio_rerio/
Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine.: http://www.ncbi.nlm.nih.gov/SNP/
PRINTS from Genomenet: http://www.genome.jp/
European Nucleotide Archive: http://www.ebi.ac.uk/ena/home
UNIGENE: http://www.ncbi.nlm.nih.gov/unigene/
AMIGO Gene Ontology: http://amigo.geneontology.org
Topic revision: r2 - 2013-08-09 - DivyaJagga02
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