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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2018
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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. |
format | Online Article Text |
id | pubmed-5965702 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
record_format | MEDLINE/PubMed |
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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