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

被引:104
作者
So, CW
Caldas, C
Liu, MM
Chen, SJ
Huang, QH
Gu, LJ
Sham, MH
Wiedemann, LM
Chan, LC
机构
[1] UNIV HONG KONG, DEPT PATHOL, HONG KONG, HONG KONG
[2] UNIV HONG KONG, DEPT BIOCHEM, HONG KONG, HONG KONG
[3] INST CANC RES, LEUKAEMIA RES FUND CTR, LONDON SW3 6JB, ENGLAND
[4] SHANGHAI MED UNIV 2, XIN HUA HOSP, SHANGHAI 200025, PEOPLES R CHINA
[5] KEY LAB HUMAN GENOME RES, SHANGHAI 200025, PEOPLES R CHINA
[6] SHANGHAI INST HAEMATOL, SHANGHAI 200025, PEOPLES R CHINA
关键词
D O I
10.1073/pnas.94.6.2563
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
The MLL gene, the closest human homologue to the Drosophila trithorax gene, undergoes chromosomal translocation with a large number of different 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, where two other MLL partner genes, ENL and ELL/MEN have also been identified, 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-terminal SH3 domain found in the Grb2/Sem-5/Drk family of genes, Sequence analysis of the fusion MLL/EEN transcript in our patient reveals that exon 6 of MLL is fused to the N-terminal end of EEN, a fusion that would create a chimeric protein that includes the major functional domain 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 homologue of a member of a recently described murine SH3 domain-containing protein family, It is also highly related to a putative gene identified in Caenorhabditis elegans, and a number of similar sequences are present in the EST databases of several species.
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收藏
页码:2563 / 2568
页数:6
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