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High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development

Defects in patterning during human embryonic development frequently result in craniofacial abnormalities. The gene regulatory programs that build the craniofacial complex are likely controlled by information located between genes and within intronic sequences. However, systematic identification of r...

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Detalles Bibliográficos
Autores principales: Wilderman, Andrea, VanOudenhove, Jennifer, Kron, Jeffrey, Noonan, James P., Cotney, Justin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965702/
https://www.ncbi.nlm.nih.gov/pubmed/29719267
http://dx.doi.org/10.1016/j.celrep.2018.03.129
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author Wilderman, Andrea
VanOudenhove, Jennifer
Kron, Jeffrey
Noonan, James P.
Cotney, Justin
author_facet Wilderman, Andrea
VanOudenhove, Jennifer
Kron, Jeffrey
Noonan, James P.
Cotney, Justin
author_sort Wilderman, Andrea
collection PubMed
description Defects in patterning during human embryonic development frequently result in craniofacial abnormalities. The gene regulatory programs that build the craniofacial complex are likely controlled by information located between genes and within intronic sequences. However, systematic identification of regulatory sequences important for forming the human face has not been performed. Here, we describe comprehensive epigenomic annotations from human embryonic craniofacial tissues and systematic comparisons with multiple tissues and cell types. We identified thousands of tissue-specific craniofacial regulatory sequences and likely causal regions for rare craniofacial abnormalities. We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period. These data are provided in easily accessible formats for both craniofacial researchers and clinicians to aid future experimental design and interpretation of noncoding variation in those affected by craniofacial abnormalities.
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spelling pubmed-59657022018-05-23 High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development Wilderman, Andrea VanOudenhove, Jennifer Kron, Jeffrey Noonan, James P. Cotney, Justin Cell Rep Article Defects in patterning during human embryonic development frequently result in craniofacial abnormalities. The gene regulatory programs that build the craniofacial complex are likely controlled by information located between genes and within intronic sequences. However, systematic identification of regulatory sequences important for forming the human face has not been performed. Here, we describe comprehensive epigenomic annotations from human embryonic craniofacial tissues and systematic comparisons with multiple tissues and cell types. We identified thousands of tissue-specific craniofacial regulatory sequences and likely causal regions for rare craniofacial abnormalities. We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period. These data are provided in easily accessible formats for both craniofacial researchers and clinicians to aid future experimental design and interpretation of noncoding variation in those affected by craniofacial abnormalities. 2018-05-01 /pmc/articles/PMC5965702/ /pubmed/29719267 http://dx.doi.org/10.1016/j.celrep.2018.03.129 Text en http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Wilderman, Andrea
VanOudenhove, Jennifer
Kron, Jeffrey
Noonan, James P.
Cotney, Justin
High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development
title High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development
title_full High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development
title_fullStr High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development
title_full_unstemmed High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development
title_short High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development
title_sort high-resolution epigenomic atlas of human embryonic craniofacial development
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965702/
https://www.ncbi.nlm.nih.gov/pubmed/29719267
http://dx.doi.org/10.1016/j.celrep.2018.03.129
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