Related Experiment Video

Updated: Aug 15, 2026

Dissection of Xenopus laevis Neural Crest for in vitro Explant Culture or in vivo Transplantation
09:07

Dissection of Xenopus laevis Neural Crest for in vitro Explant Culture or in vivo Transplantation

Published on: March 4, 2014

Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is

K Sossey-Alaoui1, A J Hartung, R Guerrini

  • 1J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA.

Human Molecular Genetics
|July 21, 1998
PubMed

Insights

Mutations in the doublecortin (DCX) gene cause subcortical band heterotopia (SBH) and lissencephaly (LIS), leading to intellectual disability and epilepsy. This study identifies novel DCX mutations and explores its role in neuronal migration.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Subcortical band heterotopia (SBH) and lissencephaly (LIS) are severe neurological disorders characterized by defective neuronal migration.
  • These conditions are often associated with intellectual disability and epilepsy.
  • A specific genetic locus on chromosome X (Xq22.3-q24) has been linked to LIS and SBH.

Purpose of the Study:

  • To identify mutations in the doublecortin (DCX) gene associated with LIS and SBH.
  • To investigate the expression pattern of the DCX gene in the brain.
  • To characterize the mouse Dcx gene and its protein product for insights into neuronal migration mechanisms.

Main Methods:

  • Linkage analysis and physical mapping to identify the LIS/SBH locus.
  • Mutation screening of the DCX gene in patients with LIS/SBH.
  • Gene expression analysis in human adult brain.
  • Cloning and characterization of the mouse Dcx gene.

Main Results:

  • Four novel missense mutations in the DCX gene were identified in patients with LIS and SBH.
  • A familial mutation demonstrated X-linked inheritance, causing LIS in males and SBH in carrier females.
  • The DCX gene is highly expressed in the adult frontal lobe.
  • The mouse Dcx gene encodes protein isoforms homologous to human DCX and containing a Ca2+/calmodulin kinase domain.

Conclusions:

  • Mutations in the DCX gene are a significant cause of LIS and SBH.
  • The DCX protein is crucial for proper neuronal migration.
  • DCX may function as part of a novel signaling pathway involved in neuronal migration, potentially via Ca2+-dependent mechanisms.

More Related Videos

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome08:27

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome

Published on: May 22, 2019

Dissection, Culture and Analysis of Primary Cranial Neural Crest Cells from Mouse for the Study of Neural Crest Cell Delamination and Migration09:33

Dissection, Culture and Analysis of Primary Cranial Neural Crest Cells from Mouse for the Study of Neural Crest Cell Delamination and Migration

Published on: October 3, 2019

Related Concept Videos

X-Inactivation01:58

X-Inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
Dosage Compensation02:50

Dosage Compensation

In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with  distinct numbers of X chromosomes will have...
Canonical Wnt Signaling Pathway02:54

Canonical Wnt Signaling Pathway

The gene encoding the main signaling molecules of the Wnt signaling pathways (the Wnt proteins) was discovered almost four decades ago by Nüsslein-Volhard and Wieschaus. They identified and originally named the gene "wingless" (wg) after a phenotype discovered during their landmark genetic screen in Drosophila for body pattern defects. At around the same time, another researcher named Harold Varmus found that a murine tumor virus activates the mammalian wg homolog, Int-1, which results in tumor...
Hedgehog Signaling Pathway02:33

Hedgehog Signaling Pathway

The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
Non-Canonical Wnt Signaling Pathways01:41

Non-Canonical Wnt Signaling Pathways

Wnt is a zygotic effect gene that is expressed during very early embryonic development. It regulates various processes in animals starting from early development through the adult stage, such as organogenesis in the embryo and maintenance of neuronal and blood stem cells. Wnt proteins can induce a wide variety of intracellular pathways depending upon the specific abilities of different Wnt ligands to form a complex with shared and cognate receptors in the presence of different co-receptors. The...