2011 Fiscal Year Final Research Report
Anomalies of IGF-I receptor : Functional and phenotypical analysis of novel IGF-I receptor gene mutation
| Project/Area Number |
21591324
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Tottori University |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
NAGATA Ikuo 鳥取大学, 医学部, 准教授 (50252846)
HANAKI Keiichi 鳥取大学, 医学部, 教授 (20238041)
KAWASHIMA Yuki 鳥取大学, 医学部附属病院, 助教 (20403412)
OKADA Shin-ichi 鳥取大学, 医学部, 講師 (50343281)
NAGAISHI Jun-ichi 鳥取大学, 医学部附属病院, 講師 (90346354)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 小児内分泌学 |
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| Research Abstract |
We identified heterozygous mutation(Asp1105Glu) of the IGF-IR gene in a Japanese girl with high serum IGF-I levels and with SGA short stature and her mother. Cells transfected with mutated IGF-IR gene did not show any autophosphorylation of IGF-IR in response to IGF-I. Co-transfection of mutated IGF-IR gene and wild-type IGF-IR gene resulted in dominant negative effects on autophosphorylation of wild-type IGF-IR.
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