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Down syndrome cell adhesion molecule DSCAM mediates homophilic intercellular adhesion
K L Agarwala1, S Nakamura, Y Tsutsumi
1Laboratory for Neurogenetics, Brain Science Institute, Institute of Physical and Chemical Research (RIKEN), Saitama, Japan.
Brain Research. Molecular Brain Research
|August 5, 2000
Summary
Down Syndrome (DS) is linked to the DSCAM gene. This study shows DSCAM acts as a cell adhesion molecule, mediating homophilic binding between cells independently of cations.
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- Down Syndrome (DS), caused by trisomy 21, is the leading cause of intellectual disability.
- The DSCAM gene, located in the DS critical region, is a potential contributor to DS pathogenesis.
- DSCAM is a transmembrane protein homologous to cell adhesion molecules, highly expressed in the developing nervous system.
Purpose of the Study:
- To investigate the cellular function of the DSCAM protein.
- To determine if DSCAM functions as a cell adhesion molecule.
Main Methods:
- Human DSCAM cDNA was transfected into mouse fibroblast L cells.
- Protein expression was analyzed using Western blot.
- Cellular adhesion properties of DSCAM-transfected cells were assessed.
Main Results:
- Antibodies recognized a 198 kDa protein band in DSCAM-transfected L cells, indicating successful expression.
- DSCAM-expressing cells exhibited uniform surface expression.
- Transfectants showed enhanced adhesive properties, forming aggregates in a homophilic, cation-independent manner.
Conclusions:
- DSCAM functions as a cell adhesion molecule.
- DSCAM mediates cation-independent homophilic binding between cells expressing it.
- These findings provide insights into DSCAM's role in neural development and potentially in Down Syndrome.