|
Summary of Research Projects (Supports in 2005
Fiscal Year)
| Subjects |
Functional and mutational analysis of GDAP-1 |
Representative
researcher |
Tokai University Shuichi TSUJI |
| GDAP (ganglioside-induced differ-entiation-associated
protein)-1 was found by our group in a search for the genes involved in
ganglioside-induced Neuro2a differentiation, using a tetracycline-regulated
GD3 synthase cDNA expression sys-tem combined with differential display
PCRs. In 2002 two groups independently reported that mutations in a gene
encoding unknown function-GDAP-1 are associated with the autosomal recessive
Charcot-Marie-Tooth disease type 4A (CMT-4A). Since then, many mutations
were found in Europe, US and Africa, and also in China, but not in Japan.
The mutational locuses of Chinese patients were different from those of
Europe and so on, suggsting the mutational varieties occurrs in races.
Thus, in this research we carefully established the mutational analyzing
system for Japanese and start to survey the Japanese CMT-4A/4* patients.
Furthermore, the function of GDAP-1 is still uncovered. To make clear the
function of GDAP-1 must be essential for establishing the positive remedy
for these disease. The putative amino acid sequence suggests GDAP-1 has
the compricated structures including the two transmembrane regions. So
that, it was very difficult to express this protein using E. coli, yast
and so on. In this research we also establishe the GDAP-1 expression system
for functional research. |
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