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Epb4.2  -  erythrocyte protein band 4.2

Mus musculus

Synonyms: Epb42, Erythrocyte membrane protein band 4.2, Erythrocyte protein 4.2, P4.2
 
 
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Disease relevance of Epb4.2

 

High impact information on Epb4.2

  • We have mapped the murine gene for protein 4.2 (Epb4.2) to chromosome 2 where it co-localizes with pallid [2].
  • Protein 4.2 (P4.2) comprises approximately 5% of the protein mass of human erythrocyte (RBC) membranes [3].
  • Sequence alignment of P4.2 with these two transglutaminases, however, revealed that P4.2 lacks the critical cysteine residue required for the enzymatic crosslinking of substrates [3].
  • Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4.2 [4].
  • This complex was shown, in addition, to be capable of linking in solution double-stranded oligonucleotides corresponding to the two P4.2 E box GATA elements [5].
 

Biological context of Epb4.2

  • Transient transfection experiments demonstrated that a 1.7-kb mouse P4.2 promoter fused with the luciferase coding regions was induced in DMSO-treated MEL cells [1].
  • To examine the mechanism for this induction, we isolated the mouse P4.2 genomic DNA containing the 5' flanking sequence and defined the location of the P4.2 promoter [1].
  • Deletion analysis showed that a 259-bp P4.2 promoter DNA (nucleotide position -88 to +171 relative to the major transcription initiation site designated +1), containing a GATA-binding site at position -29 to -24, could still respond to the induction in differentiated MEL cells [1].
  • Presently, very little is known about the expression of the P4.2 gene during mouse embryonic development and in adult animals [6].
  • P4.2 transcripts are first detected in embryos on day 7.5 of gestation and are localized exclusively in primitive erythroid cells of yolk sac origin [6].
 

Anatomical context of Epb4.2

  • Protein 4.2 (P4.2) is an important component in the erythrocyte membrane skeletal network that regulates the stability and flexibility of erythrocytes [1].
  • These results provide the evidence for specific P4.2 expression in erythroid cells [6].
  • Around and after birth, the site for P4.2 expression is switched from liver to spleen and bone marrow, and P4.2 transcripts are only detected in cells of the erythroid lineage [6].
  • Northern blot analysis of mouse reticulocyte or spleen RNA using the P4.2 cDNA as a probe, detected a 3.5-kb message [7].
 

Regulatory relationships of Epb4.2

  • Using dimethyl sulfoxide (DMSO)-induced differentiation of murine erythroleukemia (MEL) cells as a model, transcription of the P4.2 gene was found to be induced during erythroid differentiation [1].
 

Other interactions of Epb4.2

  • We report here evidence that Epb4.2 and pa are not allelic [8].
  • Recently, we provided the evidence for specific P4.2 expression in erythroid cells during development (L. Zhu et al., 1998, Blood 91, 695-705) [1].
 

Analytical, diagnostic and therapeutic context of Epb4.2

References

  1. Induction of erythrocyte protein 4.2 gene expression during differentiation of murine erythroleukemia cells. Karacay, B., Chang, L.S. Genomics (1999) [Pubmed]
  2. The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene. White, R.A., Peters, L.L., Adkison, L.R., Korsgren, C., Cohen, C.M., Lux, S.E. Nat. Genet. (1992) [Pubmed]
  3. Molecular cloning of human protein 4.2: a major component of the erythrocyte membrane. Sung, L.A., Chien, S., Chang, L.S., Lambert, K., Bliss, S.A., Bouhassira, E.E., Nagel, R.L., Schwartz, R.S., Rybicki, A.C. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  4. Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4.2. Korsgren, C., Lawler, J., Lambert, S., Speicher, D., Cohen, C.M. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  5. Identification of a TAL1 target gene reveals a positive role for the LIM domain-binding protein Ldb1 in erythroid gene expression and differentiation. Xu, Z., Huang, S., Chang, L.S., Agulnick, A.D., Brandt, S.J. Mol. Cell. Biol. (2003) [Pubmed]
  6. Developmental expression of mouse erythrocyte protein 4.2 mRNA: evidence for specific expression in erythroid cells. Zhu, L., Kahwash, S.B., Chang, L.S. Blood (1998) [Pubmed]
  7. The murine erythrocyte protein-4.2-encoding gene: similarities and differences in structure and expression from its human counterpart. Karacay, B., Xie, E., Chang, L.S. Gene (1995) [Pubmed]
  8. The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid. Gwynn, B., Korsgren, C., Cohen, C.M., Ciciotte, S.L., Peters, L.L. Genomics (1997) [Pubmed]
  9. Molecular cloning of mouse erythrocyte protein 4.2: a membrane protein with strong homology with the transglutaminase supergene family. Rybicki, A.C., Schwartz, R.S., Qiu, J.J., Gilman, J.G. Mamm. Genome (1994) [Pubmed]
 
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