Human Molecular Genetics, Vol 8, 697-710, Copyright © 1999 by Oxford University Press
C Grimm, R Sporle, TE Schmid, ID Adler, J Adamski, K Schughart and J Graw
The human gene HIC1 (hypermethylated in cancer) maps to chromosome 17p13.3
and is deleted in the contiguous gene disorder Miller-Dieker syndrome (MDS)
[Makos-Wales et al. (1995) Nature Med., 1, 570-577; Chong et al. (1996)
Genome Res., 6, 735-741]. We isolated the murine homologue Hic1, encoding a
zinc-finger protein with a poxvirus and zinc- finger (POZ) domain and
mapped it to mouse chromosome 11 in a region exhibiting conserved synteny
to human chromosome 17. Comparison of genomic and cDNA sequences predicts
two exons for the murine Hic1. The second exon exhibits 88% identity to the
human HIC1 on DNA level. During embryonic development, Hic1 is expressed in
mesenchymes of the sclerotomes, lateral body wall, limb and cranio-facial
regions embedding the outgrowing peripheral nerves during their
differentiation. During fetal development, Hic1 additionally is expressed
in mesenchymes apposed to precartilaginous condensations, at many
interfaces to budding epithelia of inner organs, and weakly in muscles. We
observed activation of Hic1 expression in the embryonic anlagen of many
tissues displaying anomalies in MDS patients. Besides lissencephaly, MDS
patients exhibit facial dysmorphism and frequently additional birth
defects, e.g. anomalies of the heart, kidney, gastrointestinal tract and
the limbs (OMIM 247200). Thus, HIC1 activity may correlate with the
defective development of the nose, jaws, extremities, gastrointestinal
tract and kidney in MDS patients.
ARTICLES
Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome
GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, D-85764 Neuherberg, Germany.
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