I. Nilson et al., EXON INTRON STRUCTURE OF THE HUMAN ALL-1 (MLL) GENE INVOLVED IN TRANSLOCATIONS TO CHROMOSOMAL REGION 11Q23 AND ACUTE LEUKEMIAS/, British Journal of Haematology, 93(4), 1996, pp. 966-972
The acute lymphoblastic leukaemia (ALL)-1 gene on human chromosome 11q
23 is the site of many locally clustered chromosomal alterations assoc
iated with several types of acute leukaemias, including deletions, par
tial duplications and translocations. Structurally variant proteins de
rived from the altered gene presumably cause the malignant transformat
ion of early haemopoietic progenitor cells. According to previously pu
blished reports, the gene consisted of at least 21 exons spread over a
pproximately 100 kb. In this report a set of genomic fragments was iso
lated that represent a total of 35 exons (exons 3-37) encompassing >95
% of the protein-coding region (except exons 1 and 2) and the 3'-non-t
ranslated region of the gene. The distances between these exons were d
etermined and a detailed restriction map was produced. The majority of
the exon/intron boundaries were sequenced and an intron-phase analysi
s was performed. The results form the basis for a greater understandin
g of the translocations and other structural alterations of the gene t
hat conserve the open reading frame and thus produce presumably oncoge
nic variants of the ALL-1 protein.