BBX (gene)

BBX
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WZ6
Identifiers
Aliases	BBX , ARTC1, HBP2, HSPC339, MDS001, bobby sox homolog (Drosophila), HMG-box containing
External IDs	MGI: 1917758 HomoloGene: 10634 GeneCards: BBX
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q13.12 Start 107,522,936 bp [1] End 107,811,324 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16|16 B5 Start 50,012,207 bp [2] End 50,252,753 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis caput epididymis corpus callosum lactiferous duct inferior ganglion of vagus nerve seminal vesicula Achilles tendon saphenous vein optic nerve trigeminal ganglion Top expressed in cumulus cell spermatid ascending aorta pineal gland pituitary gland seminiferous tubule aortic valve belly cord lacrimal gland yolk sac More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm cytosol Biological process bone development regulation of transcription, DNA-templated transcription, DNA-templated regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 16: 50.01 – 50.25 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Model organisms

Bbx knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Abnormal [6]
Radiography	Abnormal [7]
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Abnormal
Haematology	Normal [8]
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Abnormal [9]
Tail epidermis wholemount	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal [10]
Citrobacter infection	Normal [11]
All tests and analysis from [12] [13]

Model organisms have been used in the study of BBX function. A conditional knockout mouse line, called Bbx^{tm1a(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. S2CID   39281705.
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.

External links

• Human BBX genome location and BBX gene details page in the UCSC Genome Browser .

Further reading

• Caporaso N, Gu F, Chatterjee N, Sheng-Chih J, Yu K, Yeager M, Chen C, Jacobs K, Wheeler W, Landi MT, Ziegler RG, Hunter DJ, Chanock S, Hankinson S, Kraft P, Bergen AW (2009). "Genome-wide and candidate gene association study of cigarette smoking behaviors". PLOS ONE. 4 (2): e4653. Bibcode:2009PLoSO...4.4653C. doi: 10.1371/journal.pone.0004653 . PMC   2644817 . PMID   19247474.
• Wang HY, Peng G, Guo Z, Shevach EM, Wang RF (Mar 2005). "Recognition of a new ARTC1 peptide ligand uniquely expressed in tumor cells by antigen-specific CD4+ regulatory T cells". Journal of Immunology. 174 (5): 2661–70. doi: 10.4049/jimmunol.174.5.2661 . PMID   15728473.
• Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C (Aug 2009). "Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling". Gut. 58 (8): 1078–83. doi:10.1136/gut.2008.169052. PMID   19240061. S2CID   17111427.
• Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (Apr 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID   8619474.
• Sánchez-Díaz A, Blanco MA, Jones N, Moreno S (Sep 2001). "HBP2: a new mammalian protein that complements the fission yeast MBF transcription complex". Current Genetics. 40 (2): 110–8. doi:10.1007/s002940100241. PMID   11680820. S2CID   30444254.