2010 Fiscal Year Final Research Report
Functional analysis of GDD1 gene responsible for gnathodiaphyseal dysplasia(GDD)
| Project/Area Number |
20791517
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Surgical dentistry
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| Research Institution | Hiroshima University |
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Principal Investigator |
MIZUTA Kuniko Hiroshima University, 大学院・医歯薬学総合研究科, 助教 (40432679)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 遺伝子 / 発生・分化 / 細胞・組織 |
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| Research Abstract |
In this study, we generated specific antibodies against the human GDDI protein. As an essential step toward elucidating the molecular functions of GDDI gene, we also made the GDD1 expression vector and had been tried to establish stable expression system of GDDI protein in the cultured cell. The GDDI protein was easily degraded in the cell, and the protein detection was difficult. Therefore, the physiological and molecular biochemical functions of GDDI gene have been uncertain. However, our recent study led to identify that GDD1 gene was also the responsible gene of proximal limb girdle muscular dystrophy (LGMD2L) of which the symptom was a muscular atrophy, and the GDDI gene was demonstrated to play important roles in the skeletal muscle homeostasis maintenance by the expression experiment using the myoblastic cell line.
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Research Products
(7 results)
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[Journal Article] Recessive mutations in the putativecalcium-activated chloride channelAnoctamin 5 cause proximal LGMD2L anddistal MMD3 muscular dystrophies.2010
Author(s)
Bolduc V, Marlow G, Boycott KIVI, SalekiK, Inoue H, Kroon J, Itakura M,Robitaille Y, Parent L, Baas F, MizutaK, Kamata N, Richard I, Linssen WH,Mahjneh I, de Visser M, Bashir R, Brais B
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Journal Title
Am J.Hum Genet. 86(2)
Pages: 213-21
Peer Reviewed
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