BBX (gene)

HMG box transcription factor BBX also known as bobby sox homolog or HMG box-containing protein 2 is a protein that in humans is encoded by the BBX gene.[5]

BBX
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesBBX, ARTC1, HBP2, HSPC339, MDS001, bobby sox homolog (Drosophila), HMG-box containing
External IDsMGI: 1917758 HomoloGene: 10634 GeneCards: BBX
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3q13.12Start107,522,936 bp[1]
End107,811,324 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

56987

70508

Ensembl

ENSG00000114439

ENSMUSG00000022641

UniProt

Q8WY36

Q8VBW5

RefSeq (mRNA)

NM_001142568
NM_001276286
NM_020235

NM_027444
NM_001347240

RefSeq (protein)

NP_001136040
NP_001263215
NP_064620

NP_001334169
NP_081720

Location (UCSC)Chr 3: 107.52 – 107.81 MbChr 16: 50.19 – 50.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Model organisms

Model organisms have been used in the study of BBX function. A conditional knockout mouse line, called Bbxtm1a(EUCOMM)Wtsi[14][15] 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.[16][17][18]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[12][19] Twenty six tests were carried out on homozygous mutant adult mice and four significant abnormalities were observed.[12] A study of body composition found decreases in bone mineral density and content, and a reduction in body length in female mice, while mutants of both sexes showed a reduction in lean body mass. Radiography found that males had abnormal teeth morphology. Females had a decreased heart weight, and both sexes had reduced IgA levels in their plasma.[12]

References

  1. GRCh38: Ensembl release 89: ENSG00000114439 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000022641 - 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. "Entrez Gene: bobby sox homolog (Drosophila)". Retrieved 2011-08-30.
  6. "DEXA data for Bbx". Wellcome Trust Sanger Institute.
  7. "Radiography data for Bbx". Wellcome Trust Sanger Institute.
  8. "Haematology data for Bbx". Wellcome Trust Sanger Institute.
  9. "Heart weight data for Bbx". Wellcome Trust Sanger Institute.
  10. "Salmonella infection data for Bbx". Wellcome Trust Sanger Institute.
  11. "Citrobacter infection data for Bbx". Wellcome Trust Sanger Institute.
  12. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  13. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  14. "International Knockout Mouse Consortium". Archived from the original on 2012-03-20. Retrieved 2012-01-06.
  15. "Mouse Genome Informatics".
  16. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  17. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  18. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  19. van der Weyden L, White JK, Adams DJ, Logan DW (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.

Further reading


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