BAZ1B

BAZ1B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1F62
Identifiers
Aliases	BAZ1B , WBSCR10, WBSCR9, WSTF, bromodomain adjacent to zinc finger domain 1B
External IDs	OMIM: 605681 MGI: 1353499 HomoloGene: 22651 GeneCards: BAZ1B
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7q11.23 Start 73,440,406 bp [1] End 73,522,293 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 G2 Start 135,216,118 bp [2] End 135,274,983 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte ganglionic eminence sural nerve Achilles tendon cerebellar vermis stromal cell of endometrium islet of Langerhans vena cava smooth muscle tissue Top expressed in maxillary prominence secondary oocyte condyle hand dermis somite cingulate gyrus vas deferens pituitary gland medullary collecting duct More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding histone kinase activity histone binding non-membrane spanning protein tyrosine kinase activity metal ion binding kinase activity protein binding protein tyrosine kinase activity ATP binding zinc ion binding Cellular component pericentric heterochromatin nuclear replication fork nucleoplasm condensed chromosome nucleus nuclear body Biological process epigenetic maintenance of chromatin in transcription-competent conformation chromatin remodeling phosphorylation transcription, DNA-templated cellular response to DNA damage stimulus peptidyl-tyrosine phosphorylation regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9031 22385 Ensembl ENSG00000009954 ENSMUSG00000002748 UniProt Q9UIG0 Q9Z277 RefSeq (mRNA) NM_023005 NM_032408 NM_001370402 NM_011714 RefSeq (protein) NP_115784 NP_001357331 NP_035844 Location (UCSC) Chr 7: 73.44 – 73.52 Mb Chr 5: 135.22 – 135.27 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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 Baz1b^{tm2a(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]}

Baz1b knockout mouse phenotype

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.

References

1. GRCh38: Ensembl release 89: ENSG00000009954 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000002748 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. S2CID   46824270.
6. 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.
7. "Entrez Gene: BAZ1B bromodomain adjacent to zinc finger domain, 1B".
8. 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. Bibcode:2019SciA....5.7908Z. doi:10.1126/sciadv.aaw7908. PMC   6892627 . PMID   31840056.
9. Marshall M (Dec 14, 2019). "A single gene controls how our faces develop when we are young". New Scientist.
10. KOMP. "Baz1b^{tm2a(KOMP)Wtsi}". knockoutmouse.org. Archived from the original on 2011-10-05. Retrieved 2011-06-28.
11. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
12. 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. S2CID   18872015.
13. 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.
14. 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.
15. 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. S2CID   85911512.
16. Wellcome Trust Sanger Institute. "MGP Phenotyping of Baz1b^{tm2a(KOMP)Wtsi}". Mouse Resources Portal. sanger.ac.uk.
17. Wellcome Trust Sanger Institute. "Viability at Weaning Data for Baz1b". Mouse Resources Portal. sanger.ac.uk.
18. Wellcome Trust Sanger Institute. "Weight Curves Data for Baz1b". Mouse Resources Portal. sanger.ac.uk.
19. Wellcome Trust Sanger Institute. "Indirect Calorimetry Data for Baz1b". Mouse Resources Portal. sanger.ac.uk.
20. Wellcome Trust Sanger Institute. "Body Composition (DEXA) Data for Baz1b". Mouse Resources Portal. sanger.ac.uk.
21. Wellcome Trust Sanger Institute. "X-ray Imaging Data for Baz1b". Mouse Resources Portal. sanger.ac.uk.
22. Wellcome Trust Sanger Institute. "Salmonella Challenge Data for Baz1b". Mouse Resources Portal. sanger.ac.uk.

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. S2CID   23842462.
• 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. S2CID   4344740.
• 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. S2CID   7827573.

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.