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Nlrp2  -  NLR family, pyrin domain containing 2

Mus musculus

Synonyms: E330007A02Rik, NBS1, Nalp2, Nbs1, PAN1, ...
 
 
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Disease relevance of Nlrp2

  • This study gives insight into the physiological function of NBS1 (the Nbn gene product) and the function of the DNA damage response in the neurological anomalies of NBS, ataxia telangiectasia and ATLD [1].
 

High impact information on Nlrp2

  • Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair [2].
  • To elucidate the physiological roles of NBS1, we disrupted the N-terminal exons of the NBS1 gene in mice [2].
  • In contrast to Atm(-/-) mice, spermatogenesis is normal in NBS1(m/m) mice, indicating that distinct roles of ATM have differential requirement for NBS1 activity [2].
  • The NBS1 gene codes for a protein, nibrin, involved in the processing/repair of DNA double strand breaks and in cell cycle checkpoints [3].
  • PAN-1 (pancreatic) tumours were significantly stimulated by E2 (by 64% of control, P = 0.02) and Onapristone treatment inhibited E2 stimulated growth (52% reduction of E2 control, P > 0.05) [4].
 

Analytical, diagnostic and therapeutic context of Nlrp2

  • To study the impact of NBS1 heterozygosity on malignancy susceptibility, we disrupted the murine homologue (Nbn) of NBS1 in mice using gene targeting techniques [5].

References

  1. An essential function for NBS1 in the prevention of ataxia and cerebellar defects. Frappart, P.O., Tong, W.M., Demuth, I., Radovanovic, I., Herceg, Z., Aguzzi, A., Digweed, M., Wang, Z.Q. Nat. Med. (2005) [Pubmed]
  2. Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair. Kang, J., Bronson, R.T., Xu, Y. EMBO J. (2002) [Pubmed]
  3. An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. Demuth, I., Frappart, P.O., Hildebrand, G., Melchers, A., Lobitz, S., Stöckl, L., Varon, R., Herceg, Z., Sperling, K., Wang, Z.Q., Digweed, M. Hum. Mol. Genet. (2004) [Pubmed]
  4. The effect of onapristone, a progesterone antagonist, on the growth of human gastrointestinal cancer xenografts. Jacobs, E., Watson, S.A., Ellis, I.O., Hardcastle, J.D., Robertson, J.F. Eur. J. Cancer (1997) [Pubmed]
  5. Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis. Dumon-Jones, V., Frappart, P.O., Tong, W.M., Sajithlal, G., Hulla, W., Schmid, G., Herceg, Z., Digweed, M., Wang, Z.Q. Cancer Res. (2003) [Pubmed]
 
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