EEN ENCODES FOR A MEMBER OF A NEW FAMILY OF PROTEINS CONTAINING AN SRC HOMOLOGY 3 DOMAIN AND IS THE THIRD GENE LOCATED ON CHROMOSOME 19P13 THAT FUSES TO MLL IN HUMAN LEUKEMIA
Cw. So et al., EEN ENCODES FOR A MEMBER OF A NEW FAMILY OF PROTEINS CONTAINING AN SRC HOMOLOGY 3 DOMAIN AND IS THE THIRD GENE LOCATED ON CHROMOSOME 19P13 THAT FUSES TO MLL IN HUMAN LEUKEMIA, Proceedings of the National Academy of Sciences of the United Statesof America, 94(6), 1997, pp. 2563-2568
The MLL gene, the closest human homologue to the Drosophila trithorax
gene, undergoes chromosomal translocation with a large number of diffe
rent partner genes in both acute lymphoid and acute myeloid leukemias,
We have identified a new partner gene, EEN, fused to MLL in a case of
acute myeloid leukemia, The gene is located on chromosome 19p13, wher
e two other MLL partner genes, ENL and ELL/MEN have also been identifi
ed, The deduced protein of 368 aa contains a central cy-helical region
and a C-terminal Src homology 3 (SH3) domain most similar to the C-te
rminal SH3 domain found in the Grb2/Sem-5/Drk family of genes, Sequenc
e analysis of the fusion MLL/EEN transcript in our patient reveals tha
t exon 6 of MLL is fused to the N-terminal end of EEN, a fusion that w
ould create a chimeric protein that includes the major functional doma
in of EEN, EEN is expressed in a variety of tissue types and encodes a
protein of approximately 46 kDa, The EEN protein is the human homolog
ue of a member of a recently described murine SH3 domain-containing pr
otein family, It is also highly related to a putative gene identified
in Caenorhabditis elegans, and a number of similar sequences are prese
nt in the EST databases of several species.