We have determined the genomic structure of the human LHX1 gene, a mem
ber of the LIM/homeobox (Lhx) gene family. The transcript is assembled
from five exons, which are separated by introns ranging in size from
93 nt to 2.3 kb. The two LIM domains are entirely contained in the fir
st and second exons, respectively, while the homeodomain is split into
exons three and four. This structure closely parallels the organizati
on of other mouse and human Lhx genes whose genomic Structure is known
. An exception is the mouse and human isl1 genes, whose homeodomain do
es not contain introns. An intron at the same position also occurs in
the Xlim1 gene as well as in other homeobox genes, such as evx1 and ev
x2, suggesting that this intron insertion represents an ancestral even
t, from which homeobox genes of different families originated. In this
context, evolution of the Lhx gene family probably involved the shuff
ling of this intron-containing homeobox in the proximity of a LIM-only
gene, while Islet genes were formed either by the shuffling of an int
ronless homeobox to the same LIM domain or, alternatively, by intron l
oss during their evolution. (C) 1996 Academic Press. Inc.