Tyrosine-protein kinase BAZ1B is an enzyme that in humans is encoded by the BAZ1B gene.[1][2][3]
This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23.[3]
Animal models
editModel organisms have been used in the study of BAZ1B function. A conditional knockout mouse line, called Baz1btm2a(KOMP)Wtsi,[4] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[5][6][7]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[7][8][9]
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| Characteristic | Abnormal | |||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Homozygote viability | Yes[10] | |||||||||||||||||||||||
| Body weight | Yes[11] | |||||||||||||||||||||||
| All other tests | No
| |||||||||||||||||||||||
| All tests and analysis from [8][9] | ||||||||||||||||||||||||
Six significant phenotypes were reported:[9]
- Less homozygous mutant mice survived to weaning than expected.
- Mutant mice had decreased body weights compared to wildtype control mice.
- Mutant mice showed increased activity, VO2 and energy expenditure, determined by indirect calorimetry.
- Radiography found teeth abnormalities.
- Dual-energy X-ray absorptiometry (DEXA) showed mutant female mice had a decrease in bone mineral density and content.
- Male heterozygous mice had higher bacterial counts after Salmonella infection.
Interactions
editBAZ1B has been shown to interact with CHAF1B,[12] TOP2B,[12] SMARCC2,[12] SMARCC1,[12] SMARCB1,[12] SUPT16H[12] and Calcitriol receptor.[12]
References
edit- ^ Peoples RJ, Cisco MJ, Kaplan P, Francke U (Feb 1999). "Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23". Cytogenet Cell Genet. 82 (3–4): 238–46. doi:10.1159/000015110. PMID 9858827.
{{cite journal}}: CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link) - ^ Lu X, Meng X, Morris CA, Keating MT (Jan 1999). "A novel human gene, WSTF, is deleted in Williams syndrome". Genomics. 54 (2): 241–9. doi:10.1006/geno.1998.5578. PMID 9828126.
{{cite journal}}: CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link) - ^ a b "Entrez Gene: BAZ1B bromodomain adjacent to zinc finger domain, 1B".
- ^ KOMP. "Baz1btm2a(KOMP)Wtsi". www
.knockoutmouse .org. Retrieved 24 June 2011. {{cite web}}: External link in|publisher= - ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–263. doi:10.1038/474262a. PMID 21677718.
{{cite journal}}: CS1 maint: date and year (link) - ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
{{cite journal}}: CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link) - ^ a b Van der Weyden L, White JK, Adams, DA, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
{{cite journal}}: CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ a b Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
- ^ a b c Wellcome Trust Sanger Institute. "MGP Phenotyping of Baz1btm2a(KOMP)Wtsi". Mouse Resources Portal. www
.sanger .ac .uk. Retrieved 24 June 2011. {{cite web}}: External link in|publisher= - ^ Wellcome Trust Sanger Institute. "Viability at Weaning Data for Baz1b". Mouse Resources Portal. www
.sanger .ac .uk. Retrieved 24 June 2011. {{cite web}}: External link in|publisher= - ^ Wellcome Trust Sanger Institute. "Weight Curves Data for Baz1b". Mouse Resources Portal. www
.sanger .ac .uk. Retrieved 24 June 2011. {{cite web}}: External link in|publisher= - ^ a b c d e f g Kitagawa, Hirochika; Fujiki, Ryoji; Yoshimura, Kimihiro; Mezaki, Yoshihiro; Uematsu, Yoshikatsu; Matsui, Daisuke; Ogawa, Satoko; Unno, Kiyoe; Okubo, Mataichi; Tokita, Akifumi; Nakagawa, Takeya; Ito, Takashi; Ishimi, Yukio; Nagasawa, Hiromichi; Matsumoto, Toshio; Yanagisawa, Junn; Kato, Shigeaki (2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell. 113 (7). United States: 905–17. doi:10.1016/S0092-8674(03)00436-7. ISSN 0092-8674. PMID 12837248.
{{cite journal}}: Check date values in:|year=(help); Cite has empty unknown parameters:|lay-date=and|lay-source=(help); Unknown parameter|month=ignored (help)CS1 maint: date and year (link)
Further reading
edit- Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
- Jones MH, Hamana N, Nezu J, Shimane M (2000). "A novel family of bromodomain genes". Genomics. 63 (1): 40–5. doi:10.1006/geno.1999.6071. PMID 10662543.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - Pascual J, Martinez-Yamout M, Dyson HJ, Wright PE (2001). "Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor". J. Mol. Biol. 304 (5): 723–9. doi:10.1006/jmbi.2000.4308. PMID 11124022.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - Bozhenok L, Wade PA, Varga-Weisz P (2002). "WSTF-ISWI chromatin remodeling complex targets heterochromatic replication foci". EMBO J. 21 (9): 2231–41. doi:10.1093/emboj/21.9.2231. PMC 125993. PMID 11980720.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Kitagawa H, Fujiki R, Yoshimura K; et al. (2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell. 113 (7): 905–17. doi:10.1016/S0092-8674(03)00436-7. PMID 12837248.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Hillier LW, Fulton RS, Fulton LA; et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Beausoleil SA, Jedrychowski M, Schwartz D; et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Poot RA, Bozhenok L, van den Berg DL; et al. (2005). "The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci". Nat. Cell Biol. 6 (12): 1236–44. doi:10.1038/ncb1196. PMID 15543136.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Andersen JS, Lam YW, Leung AK; et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Fujiki R, Kim MS, Sasaki Y; et al. (2005). "Ligand-induced transrepression by VDR through association of WSTF with acetylated histones". EMBO J. 24 (22): 3881–94. doi:10.1038/sj.emboj.7600853. PMC 1283952. PMID 16252006.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Percipalle P, Fomproix N, Cavellán E; et al. (2006). "The chromatin remodelling complex WSTF-SNF2h interacts with nuclear myosin 1 and has a role in RNA polymerase I transcription". EMBO Rep. 7 (5): 525–30. doi:10.1038/sj.embor.7400657. PMC 1479564. PMID 16514417.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Nousiainen M, Silljé HH, Sauer G; et al. (2006). "Phosphoproteome analysis of the human mitotic spindle". Proc. Natl. Acad. Sci. U.S.A. 103 (14): 5391–6. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Cavellán E, Asp P, Percipalle P, Farrants AK (2006). "The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription". J. Biol. Chem. 281 (24): 16264–71. doi:10.1074/jbc.M600233200. PMID 16603771.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - Olsen JV, Blagoev B, Gnad F; et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link)
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External links
edit- BAZ1B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)