BAZ1B
| BAZ1B | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | BAZ1B, WBSCR10, WBSCR9, WSTF, bromodomain adjacent to zinc finger domain 1B | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605681; MGI: 1353499; HomoloGene: 22651; GeneCards: BAZ1B; OMA:BAZ1B - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Tyrosine-protein kinase, or Bromodomain adjacent to zinc finger domain, 1B (BAZ1B) is an enzyme that in humans is encoded by the BAZ1B gene.[5][6][7]
Function
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.[7]
BAZ1B has been found to affect the activity of 448 other genes and is very important in the development of the neural crest and the face. Research suggests that changes in BAZ1B may have been involved in "self-domesticating" humans.[8][9]
Animal models
Model organisms have been used in the study of BAZ1B function. A conditional knockout mouse line, called Baz1btm2a(KOMP)Wtsi,[10] 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.[11][12][13]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[13][14][15][16]
| Characteristic | Abnormal |
|---|---|
| Homozygote viability | Yes[17] |
| Body weight | Yes[18] |
| Hair follicle cycling | No |
| Anxiety | No |
| Modified SHIRPA | No |
| Grip strength | No |
| Dysmorphology | No |
| Indirect calorimetry | Yes[19] |
| Glucose tolerance test | No |
| Auditory brainstem response | No |
| DEXA | Yes[20] |
| Radiography | Yes[21] |
| Body temperature | No |
| Eye morphology | No |
| Heart weight | No |
| Heart histology | No |
| Histology | No |
| Clinical chemistry | No |
| Plasma immunoglobulins | No |
| Haematology | No |
| Peripheral blood lymphocytes | No |
| Micronucleus test | No |
| Salmonella infection | Yes[22] |
| Citrobacter infection | No |
| All tests and analysis from [14][15][16] | |
Six significant phenotypes were reported:[16]
- Fewer 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
BAZ1B has been shown to interact with:
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000009954 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000002748 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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". Cytogenetics and Cell Genetics. 82 (3–4): 238–46. doi:10.1159/000015110. PMID 9858827.
- ^ Lu X, Meng X, Morris CA, Keating MT (December 1998). "A novel human gene, WSTF, is deleted in Williams syndrome". Genomics. 54 (2): 241–9. doi:10.1006/geno.1998.5578. PMID 9828126.
- ^ a b "Entrez Gene: BAZ1B bromodomain adjacent to zinc finger domain, 1B".
- ^ Zanella M, Vitriolo A, Andirko A, Martins PT, Sturm S, O'Rourke T, et al. (December 2019). "Dosage analysis of the 7q11. 23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication". Science Advances. 5 (12): eaaw7908. doi:10.1126/sciadv.aaw7908. PMC 6892627. PMID 31840056.
- ^ Marshall, Michael (Dec 14, 2019). "A single gene controls how our faces develop when we are young". New Scientist.
{{cite journal}}: Unknown parameter|name-list-format=ignored (|name-list-style=suggested) (help) - ^ KOMP. "Baz1btm2a(KOMP)Wtsi". knockoutmouse.org. Archived from the original on 2011-10-05. Retrieved 2011-06-28.
- ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ^ 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.
- ^ a b van der Weyden L, White JK, Adams DJ, 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: unflagged free DOI (link) - ^ a b Karp NA, Baker LA, Gerdin AK, Adams NC, Ramírez-Solis R, White JK (October 2010). "Optimising experimental design for high-throughput phenotyping in mice: a case study". Mammalian Genome. 21 (9–10): 467–76. doi:10.1007/s00335-010-9279-1. PMC 2974211. PMID 20799038.
- ^ a b Gardin A, White J (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. sanger.ac.uk.
- ^ Wellcome Trust Sanger Institute. "Viability at Weaning Data for Baz1b". Mouse Resources Portal. sanger.ac.uk.
- ^ Wellcome Trust Sanger Institute. "Weight Curves Data for Baz1b". Mouse Resources Portal. sanger.ac.uk.
- ^ Wellcome Trust Sanger Institute. "Indirect Calorimetry Data for Baz1b". Mouse Resources Portal. sanger.ac.uk.
- ^ Wellcome Trust Sanger Institute. "Body Composition (DEXA) Data for Baz1b". Mouse Resources Portal. sanger.ac.uk.
- ^ Wellcome Trust Sanger Institute. "X-ray Imaging Data for Baz1b". Mouse Resources Portal. sanger.ac.uk.
- ^ Wellcome Trust Sanger Institute. "Salmonella Challenge Data for Baz1b". Mouse Resources Portal. sanger.ac.uk.
- ^ a b c d e f g Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, et al. (June 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.
Further reading
- The Washington University Genome Sequencing Cente (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
- Jones MH, Hamana N, Nezu J, Shimane M (January 2000). "A novel family of bromodomain genes". Genomics. 63 (1): 40–5. doi:10.1006/geno.1999.6071. PMID 10662543.
- Pascual J, Martinez-Yamout M, Dyson HJ, Wright PE (December 2000). "Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor". Journal of Molecular Biology. 304 (5): 723–9. doi:10.1006/jmbi.2000.4308. PMID 11124022.
- Bozhenok L, Wade PA, Varga-Weisz P (May 2002). "WSTF-ISWI chromatin remodeling complex targets heterochromatic replication foci". The EMBO Journal. 21 (9): 2231–41. doi:10.1093/emboj/21.9.2231. PMC 125993. PMID 11980720.
- Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, et al. (June 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.
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Poot RA, Bozhenok L, van den Berg DL, Steffensen S, Ferreira F, Grimaldi M, et al. (December 2004). "The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci". Nature Cell Biology. 6 (12): 1236–44. doi:10.1038/ncb1196. PMID 15543136.
- Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (January 2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413.
- Fujiki R, Kim MS, Sasaki Y, Yoshimura K, Kitagawa H, Kato S (November 2005). "Ligand-induced transrepression by VDR through association of WSTF with acetylated histones". The EMBO Journal. 24 (22): 3881–94. doi:10.1038/sj.emboj.7600853. PMC 1283952. PMID 16252006.
- Percipalle P, Fomproix N, Cavellán E, Voit R, Reimer G, Krüger T, et al. (May 2006). "The chromatin remodelling complex WSTF-SNF2h interacts with nuclear myosin 1 and has a role in RNA polymerase I transcription". EMBO Reports. 7 (5): 525–30. doi:10.1038/sj.embor.7400657. PMC 1479564. PMID 16514417.
- Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (April 2006). "Phosphoproteome analysis of the human mitotic spindle". Proceedings of the National Academy of Sciences of the United States of America. 103 (14): 5391–6. Bibcode:2006PNAS..103.5391N. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
- Cavellán E, Asp P, Percipalle P, Farrants AK (June 2006). "The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription". The Journal of Biological Chemistry. 281 (24): 16264–71. doi:10.1074/jbc.M600233200. PMID 16603771.
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 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.
External links
- BAZ1B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human BAZ1B genome location and BAZ1B gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
PDB gallery | |
|---|---|
|
