2003 Fiscal Year Final Research Report Summary

Shh expression analysis in human developmental malformation of the limbs

Research Project

Project/Area Number	14370457
Research Category	Grant-in-Aid for Scientific Research (B)
Allocation Type	Single-year Grants
Section	一般
Research Field	Orthopaedic surgery
Research Institution	NIIGATA UNIVERSITY
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)
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)
Project Period (FY)	2002 – 2003
Keywords	C7orf2 / Lmbr1 / Polydactyly / Shh(sonic hedgehog)
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.

(2 results)