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두개봉합 발육 연구를 위한 형질변환 쥐의 개발 : 어퍼트 신드롬

Other Titles
 Generation of a transgenic mouse model to study cranial suture development; Apert syndrome 
 이기준  ;  백형선  ;  나현덕  ;  박광균  ;  박영철 
 KOREAN JOURNAL OF ORTHODONTICS, Vol.33(6) : 485-497, 2003 
Journal Title
Issue Date
FGFR2 ; Apert syndrome ; Transgenic mice ; Bone-specific promoter
FGFR2 ; Apert syndrome ; Transgenic mice ; Bone-specific promoter
The form and function of the craniofacial structure critically depend on genetic information. With recent advances in the molecular technology, genes that are important for normal growth and morphogenesis of the craniofacial skeleton are being rapidly uncovered, shaping up modem craniofacial biology. One of them is fibroblast growth factor receptor 2 (FGFR2). Specific point mutations in the. FGFR2 gene have been linked to Apert syndrome, which is characterized by premature closure of cranial sutures and craniofacial anomalies as well as limb deformities. To study pathogenic mechanisms underlying craniosynostosis phenotype of Apert syndrome, we used a transgenic approach; an FGFR2 minigene construct containing an Apert mutation (a point mutation that substitute proline at the position 253 to arginine; P253R) was introduced into fertilized mouse germ cells by DNA microinjection. The injected cells were then allowed to develop into transgenic mice. We used a bone-specific promoter (a DNA fragment from the type I collagen gene) to confine the expression of mutant FGFR2 gene to the bone tissue, and asked whether expression of mutant FGFR2 in bone is sufficient to cause the craniosynostosis phenotype in mice. Initial characterization of these mice shows prematurely closed cranial sutures with facial deformities expected from Apert patients. We also demonstrate that the transgene produces mutant FGFR2 protein with increased functional activities. Having this useful mouse model, we now can ask questions regarding the role of FGFR2 in normal and abnormal development of cranial bones and sutures.
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2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Orthodontics (교정과학교실) > 1. Journal Papers
Yonsei Authors
Park, Kwang Kyun(박광균)
Park, Young Chel(박영철)
Lee, Kee Joon(이기준) ORCID logo https://orcid.org/0000-0002-0782-3128
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