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PDCD10  -  programmed cell death 10

Homo sapiens

Synonyms: CCM3, Cerebral cavernous malformations 3 protein, Programmed cell death protein 10, TF-1 cell apoptosis-related protein 15, TFAR15
 
 
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Disease relevance of PDCD10

 

High impact information on PDCD10

  • In our cohort, mutation screening that included sequence and deletion analyses gave disease-gene frequencies of 40% for CCM1, 38% for CCM2, 6% for CCM3, and 16% with no mutation detected [2].
  • We identified a total of 15 deletions: 1 in the CCM1 gene, 0 in the CCM3 gene, and 14 in the CCM2 gene [2].
  • PDCD10, also called "TFAR15," had been initially identified through a screening for genes differentially expressed during the induction of apoptosis in the TF-1 premyeloid cell line [3].
  • Three mutations were found: a point mutation within exon 5 of the KRIT1 gene, a large deletion that encompassed exons 1 and 2 of the MGC4607 gene, and a large genomic de novo deletion encompassing the whole PDCD10 gene [4].
  • Proprietary serum-free media such as ExCell 405 (JRH Biosciences), Express Five (Life Technologies), IS BAC (Irvine Scientific), and CCM3 (HyClone) are available which were developed specifically for a suspension culture of High Five cells [5].
 

Biological context of PDCD10

  • All of the coding exons of the KRIT1, MGC4607, and PDCD10 genes were screened as previously described [4].
  • Interestingly, when examining the haplotypes of previously published CCM3 families, we found a distinct recombination event in one of the largest CCM3 families that excludes the PDCD10 gene [6].
  • CCM loci have already been assigned to chromosomes 7q (CCM1), 7p (CCM2), and 3q (CCM3) and have been identified in 40%, 20%, and 40%, respectively, of families with CCM [7].
  • Multilocus analysis yields a maximum lod score of 14.11, with 40% of kindreds linked to CCM1, 20% linked to CCM2 and 40% linked to CCM3, with highly significant evidence for linkage to three loci (linkage to three loci supported with an odds ratio of 2.6 x 10(5):1 over linkage to two loci and 1.6 x 10(9):1 over linkage to one locus) [8].
  • Linkage studies have revealed genetic heterogeneity among the dominantly inherited forms suggesting the existence of at least three loci called CCM1, CCM2 and CCM3 [9].
 

Anatomical context of PDCD10

 

Regulatory relationships of PDCD10

  • Potent short interfering RNAs (siRNAs) against PDCD10 (siPDCD10) and MST4 (siMST4) were designed to specifically inhibit the expression of PDCD10 and MST4 mRNA, respectively [11].
 

Other interactions of PDCD10

 

Analytical, diagnostic and therapeutic context of PDCD10

References

  1. Genotype-phenotype correlations in cerebral cavernous malformations patients. Denier, C., Labauge, P., Bergametti, F., Marchelli, F., Riant, F., Arnoult, M., Maciazek, J., Vicaut, E., Brunereau, L., Tournier-Lasserve, E. Ann. Neurol. (2006) [Pubmed]
  2. Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations. Liquori, C.L., Berg, M.J., Squitieri, F., Leedom, T.P., Ptacek, L., Johnson, E.W., Marchuk, D.A. Am. J. Hum. Genet. (2007) [Pubmed]
  3. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J.J., Neau, J.P., Parker, F., Tremoulet, M., Tournier-Lasserve, E. Am. J. Hum. Genet. (2005) [Pubmed]
  4. Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study. Labauge, P., Krivosic, V., Denier, C., Tournier-Lasserve, E., Gaudric, A. Arch. Ophthalmol. (2006) [Pubmed]
  5. Low-cost serum-free medium for the BTI-Tn5B1-4 insect cell line. Donaldson, M.S., Shuler, M.L. Biotechnol. Prog. (1998) [Pubmed]
  6. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Liquori, C.L., Berg, M.J., Squitieri, F., Ottenbacher, M., Sorlie, M., Leedom, T.P., Cannella, M., Maglione, V., Ptacek, L., Johnson, E.W., Marchuk, D.A. Hum. Mutat. (2006) [Pubmed]
  7. Mutations within the MGC4607 gene cause cerebral cavernous malformations. Denier, C., Goutagny, S., Labauge, P., Krivosic, V., Arnoult, M., Cousin, A., Benabid, A.L., Comoy, J., Frerebeau, P., Gilbert, B., Houtteville, J.P., Jan, M., Lapierre, F., Loiseau, H., Menei, P., Mercier, P., Moreau, J.J., Nivelon-Chevallier, A., Parker, F., Redondo, A.M., Scarabin, J.M., Tremoulet, M., Zerah, M., Maciazek, J., Tournier-Lasserve, E. Am. J. Hum. Genet. (2004) [Pubmed]
  8. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Craig, H.D., Günel, M., Cepeda, O., Johnson, E.W., Ptacek, L., Steinberg, G.K., Ogilvy, C.S., Berg, M.J., Crawford, S.C., Scott, R.M., Steichen-Gersdorf, E., Sabroe, R., Kennedy, C.T., Mettler, G., Beis, M.J., Fryer, A., Awad, I.A., Lifton, R.P. Hum. Mol. Genet. (1998) [Pubmed]
  9. Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation. Dupré, N., Verlaan, D.J., Hand, C.K., Laurent, S.B., Turecki, G., Davenport, W.J., Acciarri, N., Dichgans, J., Ohkuma, A., Siegel, A.M., Rouleau, G.A. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. (2003) [Pubmed]
  10. Superantigen mediated shock: a cytokine release syndrome. Miethke, T., Wahl, C., Regele, D., Gaus, H., Heeg, K., Wagner, H. Immunobiology (1993) [Pubmed]
  11. PDCD10 interacts with Ste20-related kinase MST4 to promote cell growth and transformation via modulation of the ERK pathway. Ma, X., Zhao, H., Shan, J., Long, F., Chen, Y., Chen, Y., Zhang, Y., Han, X., Ma, D. Mol. Biol. Cell (2007) [Pubmed]
  12. Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. Guclu, B., Ozturk, A.K., Pricola, K.L., Bilguvar, K., Shin, D., O'Roak, B.J., Gunel, M. Neurosurgery (2005) [Pubmed]
 
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