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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

NDUFB2  -  NADH dehydrogenase (ubiquinone) 1 beta...

Homo sapiens

Synonyms: AGGG, CI-AGGG, Complex I-AGGG, NADH-ubiquinone oxidoreductase AGGG subunit
 
 
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Disease relevance of NDUFB2

 

High impact information on NDUFB2

  • The AGGG haplotype was associated with an odds ratio (95% confidence interval) of 0.5 (0.3-0.9) (P = 0.005) for the presence of PP compared to GAGG [2].
  • The AGGG-repeat resembles the 5'-gGGGAGGG-3' sequence previously implicated in the response of the atrial natriuretic factor promoter to the alpha-adrenergic agonist, phenylephrine [3].
  • These data suggest that the A/G rich sequences in the rat FGF-2 gene 5'-flanking DNA, including the AGGG-repeat, are able to confer stimulatory activity on a promoter in a tissue- and species-independent manner, but alone are not able to induce a significant phenylephrine response in neonatal rat cardiac myocytes [3].
  • Substitutions of individual guanines with Z indicate that the high affinity Fe2+ binding at AGGG involves two adjacent guanine N7 moieties [4].
  • Of the G + C-rich quartets, CCCC and AGGG exhibit large peaks near transcription initiation sites [5].

References

  1. COX-2 gene promoter haplotypes and prostate cancer risk. Panguluri, R.C., Long, L.O., Chen, W., Wang, S., Coulibaly, A., Ukoli, F., Jackson, A., Weinrich, S., Ahaghotu, C., Isaacs, W., Kittles, R.A. Carcinogenesis (2004) [Pubmed]
  2. Association of aromatase (CYP 19) gene variation with features of hyperandrogenism in two populations of young women. Petry, C.J., Ong, K.K., Michelmore, K.F., Artigas, S., Wingate, D.L., Balen, A.H., de Zegher, F., Ibáñez, L., Dunger, D.B. Hum. Reprod. (2005) [Pubmed]
  3. An A/G-rich motif in the rat fibroblast growth factor-2 gene confers enhancer activity on a heterologous promoter in neonatal rat cardiac myocytes. Detillieux, K.A., Meyers, A.F., Meij, J.T., Cattini, P.A. Mol. Cell. Biochem. (1998) [Pubmed]
  4. Preferential binding and structural distortion by Fe2+ at RGGG-containing DNA sequences correlates with enhanced oxidative cleavage at such sequences. Rai, P., Wemmer, D.E., Linn, S. Nucleic Acids Res. (2005) [Pubmed]
  5. Nucleotide quartets in the vicinity of eukaryotic transcriptional initiation sites: some DNA and chromatin structural implications. Nussinov, R. DNA (1987) [Pubmed]
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