Human Molecular Genetics, Vol 7, 227-237, Copyright © 1998 by Oxford University Press
K Yamakawa, YK Huot, MA Haendelt, R Hubert, XN Chen, GE Lyons and JR Korenberg
Down syndrome (DS), a major cause of mental retardation, is characterized
by subtle abnormalities of cortical neuroanatomy, neurochemistry and
function. Recent work has shown that chromosome band 21q22 is critical for
many of the neurological phenotypes of DS. A gene, DSCAM (Down syndrome
cell adhesion molecule), has now been isolated from chromosome band
21q22.2-22.3. Homology searches indicate that the putative DSCAM protein is
a novel member of the immunoglobulin (Ig) superfamily that represents a new
class of neural cell adhesion molecules. The sequence of cDNAs indicates
alternative splicing and predicts two protein isoforms, both containing 10
Ig-C2 domains, with nine at the N-terminus and the tenth located between
domains 4 and 5 of the following array of six fibronectin III domains, with
or without the following transmembrane and intracellular domains. Northern
analyses reveals the transcripts of 9.7, 8.5 and 7.6 kb primarily in brain.
These transcripts are differentially expressed in substructures of the
adult brain. Tissue in situ hybridization analyses of a mouse homolog of
the DSCAM gene revealed broad expression within the nervous system at the
time of neuronal differentiation in the neural tube, cortex, hippocampus,
medulla, spinal cord and most neural crest-derived tissues. Given its
location on chromosome 21, its specific expression in the central nervous
system and neural crest, and the homologies to molecules involved in neural
migration, differentiation, and synaptic function, we propose that DSCAM is
involved in neural differentiation and contributes to the central and
peripheral nervous system defects in DS.
ARTICLES
DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system
Division of Medical Genetics, Cedars-Sinai Research Institute/UCLA, Los Angeles, CA 90048-1869, USA.
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