인문학
사회과학
자연과학
공학
의약학
농수해양학
예술체육학
복합학
DBpia AI
AI 에이전트
AI 아이디어
AI 리더
AI 뷰어
Citeasy
크롬 서지관리 다운로드
지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
이용수
초록· 키워드
Primary cilia orchestrate key developmental signaling pathways, and their dysfunction causes multisystem disorders collectively termed ciliopathies that often present with structural anomalies of the face, limbs, and brain. JBTS17 encodes a cilia associated scaffold required for proper ciliogenesis and ciliary signaling. Biallelic loss-of-function variants in JBTS17 are linked to Joubert spectrum disorders that include craniofacial malformations and polydactyly. To delineate the anatomical consequences of complete gene inactivation in vivo, we generated a CRISPR/Cas9 induced frameshift null allele of the murine Jbts17 locus. Late gestation Jbts17<sup>KO</sup> embryos showed ocular hypopigmentation with shallow optic cups, anterior craniofacial dysmorphology, and autopod polydactyly. Coronal brain sections revealed reduced cortical thickness with apparent ventriculomegaly, and the olfactory nerve was bilaterally absent at the level of the fila olfactoria. Mouse embryonic fibroblasts derived from knockout embryos displayed reduced Lis1 protein, consistent with a link between Jbts17 loss and Lis1 dependent cellular processes. These findings indicate that Jbts17 supports cilia dependent regional patterning in eye, craniofacial, and distal limb development and contributes to forebrain and olfactory development. The Jbts17 knockout provides a practical model of ciliopathy associated structural and neuroanatomical anomalies and an anatomical reference for subsequent quantitative and mechanistic studies.
#Jbts17
#Primary cilia
#Craniofacial malformation
#Polydactyly
#Olfactory nerve agenesis
#Forebrain anomaly
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목차
- Abstract
- INTRODUCTION
- MATERIALS AND METHODS
- RESULTS
- DISCUSSION
- REFERENCES
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UCI(KEPA) : I410-151-26-02-094345412
