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OTUD6B

Introduction

OTU domain containing 6B is a protein that in humans is encoded by the OTUD6B gene.[1]

OTUD6B is a functional deubiquitinating enzyme, a class of protease that specifically cleaves ubiquitin linkages, negating the action of ubiquitin ligases. OTUD6B, also known as DUBA5, belongs to a DUB subfamily characterized by an ovarian tumor domain (OTU).[1] OTUD6B function may be connected to growth and proliferation.[2][3] This hypothesis is supported by a recent study indicating that OTUD6B knock out mice, obtained through exon 4 deletion, are subviable and smaller in size.[4] In humans, OTUD6B mutations have been connected to an intellectual disability syndrome associated with dysmorphic features.[4]

Previous studies on model organisms (see below) cannot be verified by this editor.

Model organisms have been used in the study of OTUD6B function. A conditional knockout mouse line, called Otud6btm1a(EUCOMM)Wtsi[9][10] was generated as part of the International Knockout Mouse Consortium program β€” a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[11][12][13]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[7][14] Twenty five tests were carried out on homozygous mutant adult mice, however no significant abnormalities were observed.[7]

References

References

  1. ↑ 1.0 1.1 “Entrez Gene: OTU domain containing 6B”. Retrieved 2011-08-30.
  2. ↑ Sobol A, Askonas C, Alani S, Weber MJ, Ananthanarayanan V, Osipo C, Bocchetta M (November 2016). “Deubiquitinase OTUD6B Isoforms are Important Regulators of Growth and Proliferation”. Molecular Cancer Research. 15: 117–127. doi:10.1158/1541-7786.MCR-16-0281-T. PMCΒ 5290186. PMIDΒ 27864334.
  3. ↑ Xu Z, Zheng Y, Zhu Y, Kong X, Hu L (January 2011). “Evidence for OTUD-6B participation in B lymphocytes cell cycle after cytokine stimulation”. PLOS ONE. 6 (1): e14514. doi:10.1371/journal.pone.0014514. PMCΒ 3022568. PMIDΒ 21267069.
  4. ↑ 4.0 4.1 Santiago-Sim, Teresa; Burrage, Lindsay C.; Ebstein, FrΓ©dΓ©ric; Tokita, Mari J.; Miller, Marcus; Bi, Weimin; Braxton, Alicia A.; Rosenfeld, Jill A.; Shahrour, Maher (2017-04-06). “Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features”. American Journal of Human Genetics. 100 (4): 676–688. doi:10.1016/j.ajhg.2017.03.001. ISSNΒ 1537-6605. PMCΒ 5384096. PMIDΒ 28343629.
  5. ↑ “Salmonella infection data for Otud6b”. Wellcome Trust Sanger Institute.
  6. ↑ “Citrobacter infection data for Otud6b”. Wellcome Trust Sanger Institute.
  7. ↑ 7.0 7.1 7.2 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.
  8. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  9. ↑ “International Knockout Mouse Consortium”.
  10. ↑ “Mouse Genome Informatics”.
  11. ↑ 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. PMCΒ 3572410. PMIDΒ 21677750.
  12. ↑ Dolgin E (Jun 2011). “Mouse library set to be knockout”. Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMIDΒ 21677718.
  13. ↑ 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. PMIDΒ 17218247.
  14. ↑ 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. PMCΒ 3218837. PMIDΒ 21722353.
Further reading

Further reading