Human Molecular Genetics, Vol 7, 1327-1332, Copyright © 1998 by Oxford University Press
K Sossey-Alaoui, AJ Hartung, R Guerrini, DK Manchester, A Posar, A Puche-Mira, E Andermann, WB Dobyns and AK Srivastava
Subcortical band heterotopia (SBH) and classical lissencephaly (LIS) result
from deficient neuronal migration which causes mental retardation and
epilepsy. A single LIS/SBH locus on Xq22.3-q24 was mapped by linkage
analysis and physical mapping of the breakpoint in an X;2 translocation. A
recently identified gene, doublecortin ( DCX ), is expressed in fetal brain
and mutated in LIS/SBH patients. We have identified four novel missense
mutations in the gene, one familial mutation with LIS in a male and SBH in
the carrier females, one de novo mutation in an SBH female, and two
mutations in sporadic SBH female patients. The DCX gene is found to be
expressed exclusively at a very high level in the adult frontal lobe. We
have also cloned the X-linked mouse doublecortin (Dcx) gene. It encodes
isoforms of a highly hydrophilic 40 kDa protein, homologous to its human
counterpart and containing several potential phosphorylation sites. Both
human and mouse DCX proteins are homologous to a CNS protein containing a
Ca2+/calmodulin kinase domain, suggesting that the DCX protein may belong
to a novel class of intracellular proteins involved in neuronal migration
through Ca2+-dependent signaling.
ARTICLES
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X- linked neuronal migration defects
J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA.
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