t(11;17)(q23;q12) KMT2A/RARA

2000-06-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

M5 acute myeloid leukemia (AML)

Clinics

poorly known: one case, a 39 year old man with 47,XY,+5,t(11;17)(q23;q12)

Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Dna rna description
21 exons, spanning over 100 kb; 13-15 kb mRNA
Protein description
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
RARA (Retinoic acid receptor, alpha)
Location
17q21.2
Protein description
wide expression; nuclear receptor; binds specific DNA sequences: HRE (hormone response elements); ligand and dimerization domain; role in growth and differentiation

Bibliography

Pubmed IDLast YearTitleAuthors
107201552000Involvement of the MLL and RARalpha genes in a patient with acute monocytic leukemia with t(11;17)(q23;q12)Shekhter-Levin S et al

Citation

Jean-Loup Huret

t(11;17)(q23;q12) KMT2A/RARA

Atlas Genet Cytogenet Oncol Haematol. 2000-06-01

Online version: http://atlasgeneticsoncology.org/haematological/1179/t(11;17)(q23;q12)

External Links