The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development
| العنوان: | The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development |
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| المؤلفون: | Ethan D. Sperry, Elyse N. Reamer, Adam B. Stein, Mark A. Durham, Donna M. Martin, Elizabeth A. Hurd |
| المصدر: | Developmental Dynamics. 243:1055-1066 |
| بيانات النشر: | Wiley, 2014. |
| سنة النشر: | 2014 |
| مصطلحات موضوعية: | Mice, Knockout, Pharyngeal pouch, Gene Expression Regulation, Developmental, Neural crest, Anatomy, Biology, medicine.disease, Article, Hypoplasia, Craniofacial Abnormalities, DNA-Binding Proteins, Trachea, Mice, CHARGE syndrome, Frontal bone, Dysplasia, embryonic structures, Conditional gene knockout, medicine, Animals, Abnormalities, Multiple, CHARGE Syndrome, Craniofacial, Developmental Biology |
| الوصف: | Background: Heterozygous mutations in the chromatin remodeling gene CHD7 cause CHARGE syndrome, a developmental disorder with variable craniofacial dysmorphisms and respiratory difficulties. The molecular etiologies of these malformations are not well understood. Homozygous Chd7 null mice die by E11, whereas Chd7Gt/+ heterozygous null mice are a viable and excellent model of CHARGE. We explored skeletal phenotypes in Chd7Gt/+ and Chd7 conditional knockout mice, using Foxg1-Cre to delete Chd7 (Foxg1-CKO) in the developing eye, ear, nose, pharyngeal pouch, forebrain, and gut and Wnt1-Cre (Wnt1-CKO) to delete Chd7 in migrating neural crest cells. Results: Foxg1-CKO mice exhibited postnatal respiratory distress and death, dysplasia of the eye, concha, and frontal bone, hypoplastic maxillary shelves and nasal epithelia, and reduced tracheal rings. Wnt1-CKO mice exhibited frontal and occipital bone dysplasia, hypoplasia of the maxillary shelves and mandible, and cleft palate. In contrast, heterozygous Chd7Gt/+ mice had apparently normal skeletal development. Conclusions: Conditional deletion of Chd7 in ectodermal and endodermal derivatives (Foxg1-Cre) or migrating neural crest cells (Wnt1-Cre) results in varied and more severe craniofacial defects than in Chd7Gt/+ mice. These studies indicate that CHD7 has an important, dosage-dependent role in development of several different craniofacial tissues. Developmental Dynamics 243:1055–1066, 2014. © 2014 The Authors Developmental Dynamics published by Wiley Periodicals, Inc. on behalf of American Association of Anatomists. |
| تدمد: | 1097-0177 1058-8388 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08120313770d924a9d87815a47106607Test https://doi.org/10.1002/dvdy.24156Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....08120313770d924a9d87815a47106607 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10970177 10588388 |
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