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t(11;22)(q23;q13)

Identity

Note not to be confused with the t(11;22)(q23;q11), involving MLL and hCDCrel

Clinics and Pathology

Disease a case of therapy related leukemia, 2.5 yrs after the treatment of a non Hodgkin lymphoma
Phenotype / cell stem origin acute non lymphocytic leukemia
Prognosis unknown (relapse at 20 mths) but likely to be similar to the prognosis associated with other 11q23 therapy related leukemia

Genes involved and Proteins

Gene Name 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
Gene Name P300
Location 22q13
Dna / Rna 9 kb mRNA
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

Result of the chromosomal anomaly

Hybrid gene
Transcript chimeric mRNAs from both derivative chromosomes are found
  
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
  

External links

Other databaset(11;22)(q23;q13) Mitelman database (CGAP - NCBI)
Other databaset(11;22)(q23;q13) 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

Adenoviral E1A-associated protein p300 is involved in acute myeloid leukemia with t(11;22)(q23;q13).
Ida K, Kitabayashi I, Taki T, Taniwaki M, Noro K, Yamamoto M, Ohki M, Hayashi Y
Blood. 1997 ; 90 (12) : 4699-4704.
PMID 9389684
 

Contributor(s)

Written01-2000Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . t(11;22)(q23;q13). Atlas Genet Cytogenet Oncol Haematol. January 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/t1122P300ID1121.html

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indexed on : Sat Dec 6 18:03:22 2008


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