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RHBDD3  -  rhomboid domain containing 3

Homo sapiens

Synonyms: C22orf3, HS984G1A, PTAG, Rhomboid domain-containing protein 3
 
 
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Disease relevance of RHBDD3

 

High impact information on RHBDD3

  • Sodium bisulfite sequencing of individual adenomas showed that 6 of 30 (20%) that failed to express pituitary tumor apoptosis gene (PTAG) were methylated; however, genetic change as determined by loss of heterozygosity and sequence analysis was not apparent in the remaining tumors that failed to express this gene [1].
  • We report the isolation of a novel differentially methylated chromosome 22 CpG island-associated gene (C22orf3) [1].
  • Enforced expression of C22orf3 in AtT20 cells had no measurable effects on cell proliferation or viability; however, in response to bromocriptine challenge (10-40 microm) cells expressing this gene showed a significantly augmented apoptotic response as determined by both acridine orange staining and TUNEL labeling [1].
  • The importance of PTAG was determined in other tumor types, and these studies show that the majority of primary colorectal tumors fail to express the PTAG gene, indicating an important role for PTAG in colorectal tumorigenesis [2].
  • Expression of PTAG, per se, had no discernible effects on cell viability or cell kinetics [2].
 

Biological context of RHBDD3

  • The effects of expression of PTAG were examined through stable transfection of the colorectal cell lines HCT116 and SW480 [2].
  • Although PTAG expression is significantly underexpressed in most pituitary adenomas, mechanisms in addition to methylation most likely account for its loss [3].

References

  1. Isolation and characterization of a novel pituitary tumor apoptosis gene. Bahar, A., Simpson, D.J., Cutty, S.J., Bicknell, J.E., Hoban, P.R., Holley, S., Mourtada-Maarabouni, M., Williams, G.T., Clayton, R.N., Farrell, W.E. Mol. Endocrinol. (2004) [Pubmed]
  2. Primary colorectal tumors fail to express the proapoptotic mediator PTAG and its reexpression augments drug-induced apoptosis. Bahar, A., Whitby, P., Holley, S., Hoban, P.R., Elder, J.B., Deakin, M., Hall, C., Clayton, R.N., Williams, G.T., Farrell, W.E. Genes Chromosomes Cancer (2007) [Pubmed]
  3. Epigenetic mechanisms of tumorigenesis. Farrell, W.E. Horm. Metab. Res. (2005) [Pubmed]
 
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