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Gene Review

FBXW4  -  F-box and WD repeat domain containing 4

Homo sapiens

Synonyms: DAC, Dactylin, F-box and WD-40 domain-containing protein 4, F-box/WD repeat-containing protein 4, FBW4, ...
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Disease relevance of FBXW4


High impact information on FBXW4

  • Either DAC treatment or enforced SOCS-3 expression sensitized the cells to TRAIL-mediated apoptosis [6].
  • We mapped data from a large Turkish family with isolated SHFM to chromosome 10q24 and have narrowed the SHFM3 region from 9 cM to an approximately 2-cM critical interval between genetic markers D10S1147 and D10S1240 [7].
  • This duplicated region contained a disrupted extra copy of the DACTYLIN gene and the entire LBX1 and beta-TRCP genes, known to be involved in limb development [8].
  • Mutation analysis of the DACTYLIN gene, suspected to be responsible for SHFM3 in chromosome 10q24, was conducted in seven SHFM patients [8].
  • The possible role of these genes in the SHFM3 phenotype is discussed [8].

Biological context of FBXW4

  • We screened the coding region of DACTYLIN by single-strand conformation polymorphism and sequencing, and found no point mutations [8].
  • Split hand foot malformation is associated with a reduced level of Dactylin gene expression [9].
  • The Dactylin gene comprises nine exons distributed in more than 85 kb of genomic DNA and encoding a protein with four WD40 repeats and an F-box motif [10].
  • In this communication we describe the clinical and molecular genetic findings in a family with a variable ectrodactyly linked to SHFM3 [11].
  • In fact, linkage analysis using informative microsatellite markers indicated that SHFM3 was linked to D10S577 with a maximum LOD score of 1.15 at recombination fraction zero [12].

Anatomical context of FBXW4

  • Studies of the mechanism of the interaction showed that the activity of topotecan versus each cell line correlated with the topo I activity in nuclear extracts However, there was no correlation between topo I levels and synergy and no reproducible increase in topo I activity following exposure to DAC [13].
  • Since elastic properties of grafts tested experimentally have been correlated with patency results, the compliance of the human femoral artery was compared with grafts currently in use: human saphenous vein (HSV), knitted Dacron (DAC), glutaraldehyde-treated umbilical cord vein (DBM), bovine heterograft, and expanded polytetrafluoroethylene (PTFE) [14].
  • We identified the presence, absence, and amount of calcification in the aortic valve (AVC), mitral annulus (MAC), descending aorta (DAC), and ascending aorta (AAC) [15].

Associations of FBXW4 with chemical compounds


Other interactions of FBXW4

  • It therefore appears that the Korean SHFM may be caused by mutation of SHFM3 [12].
  • Here we show, using two different techniques, FISH and quantitative PCR that SHFM3 is caused by a minimal 325 kb duplication containing only two genes (BTRC and POLL) [20].
  • Expression analysis of 13 candidate genes within and flanking the duplicated region shows that BTRC (present in three copies) and SUFU (present in two copies) are overexpressed in SHFM3 patients compared to controls [20].

Analytical, diagnostic and therapeutic context of FBXW4


  1. Decitabine (5-Aza-2'-deoxycytidine; DAC) plus daunorubicin as a first line treatment in patients with acute myeloid leukemia: preliminary observations. Schwartsmann, G., Fernandes, M.S., Schaan, M.D., Moschen, M., Gerhardt, L.M., Di Leone, L., Loitzembauer, B., Kalakun, L. Leukemia (1997) [Pubmed]
  2. Analysis of genes upregulated by the demethylating agent 5-aza-2'-deoxycytidine in gastric cancer cell lines. Mikata, R., Yokosuka, O., Fukai, K., Imazeki, F., Arai, M., Tada, M., Kurihara, T., Zhang, K., Kanda, T., Saisho, H. Int. J. Cancer (2006) [Pubmed]
  3. Epigenetic treatment of hematopoietic malignancies: in vivo targets of demethylating agents. Claus, R., Almstedt, M., Lübbert, M. Semin. Oncol. (2005) [Pubmed]
  4. Discrepancies in upper and lower limb patterning in split hand foot malformation. Elliott, A.M., Reed, M.H., Roscioli, T., Evans, J.A. Clin. Genet. (2005) [Pubmed]
  5. Human pulp response after an adhesive system application in deep cavities. Hebling, J., Giro, E.M., Costa, C.A. Journal of dentistry. (1999) [Pubmed]
  6. Sustained IL-6/STAT-3 signaling in cholangiocarcinoma cells due to SOCS-3 epigenetic silencing. Isomoto, H., Mott, J.L., Kobayashi, S., Werneburg, N.W., Bronk, S.F., Haan, S., Gores, G.J. Gastroenterology (2007) [Pubmed]
  7. Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. Ozen, R.S., Baysal, B.E., Devlin, B., Farr, J.E., Gorry, M., Ehrlich, G.D., Richard, C.W. Am. J. Hum. Genet. (1999) [Pubmed]
  8. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. de Mollerat, X.J., Gurrieri, F., Morgan, C.T., Sangiorgi, E., Everman, D.B., Gaspari, P., Amiel, J., Bamshad, M.J., Lyle, R., Blouin, J.L., Allanson, J.E., Le Marec, B., Wilson, M., Braverman, N.E., Radhakrishna, U., Delozier-Blanchet, C., Abbott, A., Elghouzzi, V., Antonarakis, S., Stevenson, R.E., Munnich, A., Neri, G., Schwartz, C.E. Hum. Mol. Genet. (2003) [Pubmed]
  9. Split hand foot malformation is associated with a reduced level of Dactylin gene expression. Basel, D., DePaepe, A., Kilpatrick, M.W., Tsipouras, P. Clin. Genet. (2003) [Pubmed]
  10. A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24. Ianakiev, P., Kilpatrick, M.W., Dealy, C., Kosher, R., Korenberg, J.R., Chen, X.N., Tsipouras, P. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
  11. The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype. Roscioli, T., Taylor, P.J., Bohlken, A., Donald, J.A., Masel, J., Glass, I.A., Buckley, M.F. Am. J. Med. Genet. A (2004) [Pubmed]
  12. Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). Kang, Y.S., Cheong, H.M., Moon, Y., Lee, I.B., Kim, S.M., Kim, H.S., Jun, S.Y., Jung, S.K., Kim, J.S., Choi, J.H., Cho, H.E., Son, J.S., Min, N.Y., Lee, K.H. Mol. Cells (2004) [Pubmed]
  13. Synergistic cytotoxicity with 2'-deoxy-5-azacytidine and topotecan in vitro and in vivo. Anzai, H., Frost, P., Abbruzzese, J.L. Cancer Res. (1992) [Pubmed]
  14. Matched elastic properties and successful arterial grafting. Walden, R., L'Italien, G.J., Megerman, J., Abbott, W.M. Archives of surgery (Chicago, Ill. : 1960) (1980) [Pubmed]
  15. Valvular and thoracic aortic calcium as a marker of the extent and severity of angiographic coronary artery disease. Yamamoto, H., Shavelle, D., Takasu, J., Lu, B., Mao, S.S., Fischer, H., Budoff, M.J. Am. Heart J. (2003) [Pubmed]
  16. Sequential 5-Aza 2'-deoxycytidine/depsipeptide FK228 treatment induces tissue factor pathway inhibitor 2 (TFPI-2) expression in cancer cells. Steiner, F.A., Hong, J.A., Fischette, M.R., Beer, D.G., Guo, Z.S., Chen, G.A., Weiser, T.S., Kassis, E.S., Nguyen, D.M., Lee, S., Trepel, J.B., Schrump, D.S. Oncogene (2005) [Pubmed]
  17. Continuous infusion of low-dose 5-Aza-2'-deoxycytidine in elderly patients with high-risk myelodysplastic syndrome. Wijermans, P.W., Krulder, J.W., Huijgens, P.C., Neve, P. Leukemia (1997) [Pubmed]
  18. Flavan-3-ols and Flavonoids from Potentilla anserina. Kombal, R., Glasl, H. Planta Med. (1995) [Pubmed]
  19. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry of 4-sulfophenyl isothiocyanate-derivatized peptides on AnchorChip sample supports using the sodium-tolerant matrix 2,4,6-trihydroxyacetophenone and diammonium citrate. Oehlers, L.P., Perez, A.N., Walter, R.B. Rapid Commun. Mass Spectrom. (2005) [Pubmed]
  20. Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. Lyle, R., Radhakrishna, U., Blouin, J.L., Gagos, S., Everman, D.B., Gehrig, C., Delozier-Blanchet, C., Solanki, J.V., Patel, U.C., Nath, S.K., Gurrieri, F., Neri, G., Schwartz, C.E., Antonarakis, S.E. Am. J. Med. Genet. A (2006) [Pubmed]
  21. Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. Kano, H., Kurosawa, K., Horii, E., Ikegawa, S., Yoshikawa, H., Kurahashi, H., Toda, T. Hum. Genet. (2005) [Pubmed]
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