BAZ1B

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]

BAZ1B
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesBAZ1B, WBSCR10, WBSCR9, WSTF, bromodomain adjacent to zinc finger domain 1B
External IDsOMIM: 605681 MGI: 1353499 HomoloGene: 22651 GeneCards: BAZ1B
Orthologs
SpeciesHumanMouse
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 MbChr 5: 135.22 – 135.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Six significant phenotypes were reported:[16]

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. "Baz1btm2a(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 Baz1btm2a(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

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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