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Depletion of CTCF induces craniofacial malformations in mouse embryos

Authors
 Hyehyun Min  ;  Hyoung-Pyo Kim  ;  Jeong-Oh Shin 
Citation
 AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH, Vol.11(9) : 6102-6109, 2019 
Journal Title
 AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH 
Issue Date
2019
Keywords
CCCTC-binding factor (CTCF) ; craniofacial malformation ; embryogenesis ; neural crest cells
Abstract
Increasing evidence implicates chromatin structure and epigenetic regulation in various human developmental disorders, including facial abnormalities and intellectual disability. Mutations in CCCTC-binding factor (CTCF) demonstrate its role in craniofacial development, but early lethality precludes the use of Ctcf mutant mice for phenotypic investigations. In this study, we deleted Ctcf specifically in neural crest cells, the multipotent cells that give rise to many structures of the skeleton and connective tissues in the developing head. Although the pharyngeal arches were initially morphologically normal, many of the neural crest cell-derived skeletal and non-skeletal components were truncated in the Wnt1-Cre; Ctcffl/fl mutant mice. The expression level of chondrogenic and osteogenic-related genes were significantly decreased. Our results implicate CTCF in two distinct events in craniofacial development; first, in the regulation of outgrowth and morphogenesis by cell survival and proliferation, and second, in the differentiation of the facial skeleton. Our findings highlight the important contribution of CTCF to craniofacial pathologies.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Environmental Medical Biology (환경의생물학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > BioMedical Science Institute (의생명과학부) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Anatomy (해부학교실) > 1. Journal Papers
Yonsei Authors
Kim, Hyoung Pyo(김형표) ORCID logo https://orcid.org/0000-0003-1441-8822
Min, Hye Hyun(민혜현) ORCID logo https://orcid.org/0000-0001-5450-5088
Shin, Jeong Oh(신정오) ORCID logo https://orcid.org/0000-0002-6935-0936
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/174869
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