| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Outline of Final Research Achievements |
We found that human CIN85 gene exists to the short-arm of X chromosome. We also found that CIN85 co-localizes in neuronal dendritic spines with Oligophrenin 1 that is a responsible gene for X-linked mental retardation and with PSD-95 that is one of scaffold protein. Moreover, we had read the DNA sequence of CIN85 gene (approximately 360.7 kbp) from the genome of patients of hyperactivity disorder and X-linked mental retardation family that has been provide from Gottingen University and compared the sequence with that of normal person. As a result, we found a deficit of 31 bases to 13th exons of several male patients. This defect was deleted proline residues of the Proline-rich region required for binding with other proteins. In patients with X-linked mental retardation, loss of function of the Proline-rich region seems to be induced the disturbance to intracellular signal transduction of normal brain function.
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