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Download Leukaemia Section t(11;22)(q23;q13) Atlas of Genetics and Cytogenetics in Oncology and Haematology
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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Short Communication t(11;22)(q23;q13) Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH) Published in Atlas Database: January 2000 Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t1122P300ID1121.html DOI: 10.4267/2042/37585 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2000 Atlas of Genetics and Cytogenetics in Oncology and Haematology Protein 264 kDa; widely expressed; possesses a nuclear localization signal, a poly-serine, a bromodomain, a poly-glu, a binding region for E1A adenovirus, and a poly-gln;. interact with transcriptional activators as well as repressors; involved (with CBP) in growth, differentiation, and apoptosis. Identity Note: Not to be confused with the t(11;22)(q23;q11), involving MLL and hCDCrel. Clinics and pathology Disease Result of the chromosomal anomaly A case of therapy related leukemia, 2.5 years after the treatment of a non Hodgkin lymphoma. Phenotype/cell stem origin Hybrid gene Acute non lymphocytic leukemia. Transcript Chimeric mRNAs from both derivative chromosomes are found. Prognosis Unknown (relapse at 20 months) but likely to be similar to the prognosis associated with other 11q23 therapy related leukemia. Fusion protein Description The MLL/p300 fusion transcript encodes a protein of about 3000 amino acids, the N-term half comprising the AT hook and DNA methyltransferase (exons 1 to 9) from MLL and the C-term half comprising the acetyltransferase domain and the TFIIB-binding domain of p300, excluding the nuclear localisation signal and the bromodomain. Genes involved and proteins MLL Location : In 11q23. DNA/RNA 13-15 kb mRNA. Protein 431 kDa; contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation. References Ida K, Kitabayashi I, Taki T, Taniwaki M, Noro K, Yamamoto M, Ohki M, Hayashi Y. Adenoviral E1A-associated protein p300 is involved in acute myeloid leukemia with t(11;22)(q23;q13). Blood. 1997 Dec 15;90(12):4699-704 P300 Location : 22q13 DNA/RNA 9 kb mRNA. Atlas Genet Cytogenet Oncol Haematol. 2000; 4(1) This article should be referenced as such: Huret JL. t(11;22)(q23;q13). Atlas Genet Cytogenet Oncol Haematol. 2000; 4(1):16. 16
