| Clinics and Pathology |
| Disease | M4 acute non lymphocytic leukaemia (ANLL) |
| Epidemiology | only 1 case to date: a 7 mth old boy |
| Prognosis | no data |
| Cytogenetics |
| Additional anomalies | sole anomaly in this case |
| Genes involved and Proteins |
| Gene Name | MLL |
| Location | 11q23 |
| Dna / Rna | 36 exons, spans over 100kb, ORF 12kb. |
| Protein | 3969 amino acids; 431 kDa; contains two DNA binding motifs (a AT hook and a DNA methyltransferase homology motif), trithorax homology domains, zinc finger domains with features of PHD fingers and the C-terminal SET domain. |
| Gene Name | CIP29 |
| Location | 12q13 |
| Protein | 210 amino acids, 29 kDa;contains from N term to C term a SAP domain and 2 nuclear localization domains |
| Result of the chromosomal anomaly |
| Description | 5' MLL - 3' CIP29 including the 9 first exons of MLL, and nearly the entire CIP29 |
| Description | The fusion protein includes from N term to C term the AT hooks and the methyltransferase domain of MLL and the SAP domain and the C term nuclear localization domains of CIP29. |
| External links |
| Other database | t(11;12)(q23;q13) (MLL/CIP29) | Mitelman database (CGAP - NCBI) | |
| Other database | t(11;12)(q23;q13) (MLL/CIP29) | CancerChromosomes (NCBI) |
| To be noted |
| Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
| Bibliography |
| Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29. |
| Fukuda S, Wu DW, Stark K, Pelus LM |
| Biochemical and biophysical research communications. 2002 ; 292 (3) : 593-600. |
| PMID 11922608 |
| A novel partner gene CIP29 containing a SAP domain with MLL identified in infantile myelomonocytic leukemia. |
| Hashii Y, Kim JY, Sawada A, Tokimasa S, Hiroyuki F, Ohta H, Makiko K, Takihara Y, Ozono K, Hara J |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2004 ; 18 (9) : 1546-1548. |
| PMID 15284855 |
| Growth inhibitory effect of Hcc-1/CIP29 is associated with induction of apoptosis, not just with G2/M arrest. |
| Fukuda S, Pelus LM |
| Cellular and molecular life sciences : CMLS. 2005 ; 62 (13) : 1526-1527. |
| PMID 15924260 |
| Contributor(s) |
| Written | 08-2005 | Jean Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(11;12)(q23;q13) (MLL/CIP29). Atlas Genet Cytogenet Oncol Haematol. August 2005 . URL : http://AtlasGeneticsOncology.org/Genes/t1112q23q13MLLID1400.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Jul 14 16:33:36 2008 |
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