| Project/Area Number |
14370457
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Orthopaedic surgery
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| Research Institution | NIIGATA UNIVERSITY |
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Principal Investigator |
ENDO Naoto NIIGATA UNIVERSITY, Graduate School of Medical and Dental Sciences, Professor, 大学院・医歯学総合研究科, 教授 (10251810)
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| Co-Investigator(Kenkyū-buntansha) |
TOKUNAGA Kunihiko NIIGATA UNIVERSITY, Medical and Dental hospital, Assistant, 医歯学総合病院, 助手 (60323987)
NOUNO Tsutomu Kawasaki Medical School, Associate Professor, 医学部, 助教授 (20098619)
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| Project Period (FY) |
2002 – 2003
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| Project Status |
Completed (Fiscal Year 2003)
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| Budget Amount *help |
¥13,400,000 (Direct Cost: ¥13,400,000)
Fiscal Year 2003: ¥5,100,000 (Direct Cost: ¥5,100,000)
Fiscal Year 2002: ¥8,300,000 (Direct Cost: ¥8,300,000)
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| Keywords | C7orf2 / Lmbr1 / Polydactyly / Shh(sonic hedgehog) / Lmbrl / 四肢形態 / ヒト多指症 / 多指変位マウス / Sonic Hedgehog / LMBR1 / ニワトリ |
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| Research Abstract |
Preaxial polydactyly (PPD) is noe of the most frequently observed human developmental malformations of the limbs. PPD locus is mapped to a 450-kb region on chromosome 7q36.
The patient, a 3-year-old girl, with bilateral symmetrical duplication of the triphalangeal thumb and triplication of the great toe was examined. The breakpoint lies within the gene C7orf2, one of five transcripts in the PPD critaical region. The Ssq mutant mice was examined. The insertion was found to lie within the same intron of Lmbr1 gene, the mouse ortholog of C7orf2.
These results indicate that the C7orf2/Lmbr1 genic region is critical to the PPD phenotype in human and mice.
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