| Identity |
| Other names | HAGE (for Helicase AntiGEn) |
| DKFZp434H2114 | |
| Hugo | DDX43 |
| Location | 6q13 |
| Local_order | between markers GATA11B08 and D6S284 |
| Note | This gene was isolated as a cDNA by applying a subtraction approach named representational difference analysis (RDA). Rhabdomyosarcoma LB23-SAR was used as the source of tester cDNA that was subtracted with driver cDNA, a mixture of human uterus, breast, heart, and colon cDNA. |
| DNA/RNA |
| Transcription | The transcript is about 2.2 kb. Gene HAGE is weakly transcribed in normal tissues: the level of expression was estimated to represent only 0.2% of the level found in the LB23-SAR reference cell line. The only exception is testis, which shows a level of expression comparable to that of LB23-SAR. Gene HAGE was found to be expressed in 90 out of 383 tumor samples of different histological types, well above the level in normal tissues; about 5% of the positive samples showed a level of expression above 10% of the level of LB23-SAR, and 7% showed a level of expression between 1-10%. Expression of HAGE was induced in fibroblasts after treatment with the demethylating agent, 5-aza-2¹-deoxycytidine. |
| Protein |
| Description | The largest open reading frame comprises 1,944 nucleotides and encodes a protein of 648 amino acids (72,871 Da). The pKi of the protein is 9.29. |
| Function | Comparison with databases revealed that HAGE shows 55% similarity with the human p68 protein, an ATP-dependent RNA helicase that is a member of the DEAD-box proteins. Four motifs that are present in members of the DEAD box family are conserved in the HAGE protein. However, ATPase and helicase activities of HAGE were not demonstrated. |
| Mutations |
| Note | No mutation was observed in the HAGE cDNA isolated from LB23-SAR. |
| Implicated in |
| Entity | Tumors |
| Note | HAGE expression can be induced by demethylating agent 5-azadeoxycytidine, suggesting that demethylation plays a role in the activation of these genes in tumors. Activation of HAGE in tumor cells most likely results therefore from the genome-wide demethylation process that is known to occur in these cells. |
| Oncogenesis | HAGE is not the first case of a DEAD-box protein that is overexpressed in tumors. Moreover, it worth noting that one out of 42 discovered mutated human tumor antigens is produced by a point mutation in a gene named MUM-3. This gene encodes a protein with homology with members of the RNA helicase family. These observations suggest that mutated or overexpressed helicases may contribute to tumoral transformation or progression. |
| External links |
| Bibliography |
| Identification on a human sarcoma of two new genes with tumor-specific expression. |
| Martelange V, De Smet C, De Plaen E, Lurquin C, Boon T |
| Cancer research. 2000 ; 60 (14) : 3848-3855. |
| PMID 10919659 |
| High frequency of autologous anti-melanoma CTL directed against an antigen generated by a point mutation in a new helicase gene. |
| Baurain JF, Colau D, van Baren N, Landry C, Martelange V, Vikkula M, Boon T, Coulie PG |
| Journal of immunology (Baltimore, Md. : 1950). 2000 ; 164 (11) : 6057-6066. |
| PMID 10820291 |
| Frequent expression of HAGE in presentation chronic myeloid leukaemias. |
| Adams SP, Sahota SS, Mijovic A, Czepulkowski B, Padua RA, Mufti GJ, Guinn BA |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2002 ; 16 (11) : 2238-2242. |
| PMID 12399967 |
| Analysis of the tumour suppressor genes, FHIT and WT-1, and the tumour rejection genes, BAGE, GAGE-1/2, HAGE, MAGE-1, and MAGE-3, in benign and malignant neoplasms of the salivary glands. |
| Nagel H, Laskawi R, Eiffert H, Schlott T |
| Molecular pathology : MP. 2003 ; 56 (4) : 226-231. |
| PMID 12890744 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 01-2007 | Etienne De Plaen |
| Citation |
| This paper should be referenced as such : |
| De Plaen E . DDX43 (DEAD (Asp-Glu-Ala-Asp) box polypeptide 43). Atlas Genet Cytogenet Oncol Haematol. January 2007 . URL : http://AtlasGeneticsOncology.org/Genes/DDX43ID40288ch6q13.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Jul 2 08:23:01 2008 |
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