Molecular mechanisms of midfacial developmental defects

Suzuki, Akiko; Sangani, Dhruvee R.; Ansari, Afreen; Iwata, Junichi

doi:10.1002/dvdy.24368

Cited by 60 publications

(75 citation statements)

References 155 publications

(178 reference statements)

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“…This intricate signaling crosstalk coordinates the convergent growth and morphogenesis of the facial prominences that is essential for aligning these structures prior to fusion (e.g. Geetha-Loganathan et al, 2014; Green et al, 2015; Hu et al, 2015; Linde-Medina et al, 2016; Suzuki et al, 2016). Subsequent interactions between the apposed epithelia then consummate lip and palate fusion (reviewed in Kousa and Schutte, 2016).…”

Section: Introductionmentioning

confidence: 99%

Systems biology of facial development: contributions of ectoderm and mesenchyme

Hooper

Feng

et al. 2017

Developmental Biology

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The rapid increase in gene-centric biological knowledge coupled with analytic approaches for genomewide data integration provides an opportunity to develop systems-level understanding of facial development. Experimental analyses have demonstrated the importance of signaling between the surface ectoderm and the underlying mesenchyme in coordinating facial patterning. However, current transcriptome data from the developing vertebrate face is dominated by the mesenchymal component, and the contributions of the ectoderm are not easily identified. We have generated transcriptome datasets from critical periods of mouse face formation that enable gene expression to be analyzed with respect to time, prominence, and tissue layer. Notably, by separating the ectoderm and mesenchyme we considerably improved the sensitivity compared to data obtained from whole prominences, with more genes detected over a wider dynamic range. From these data we generated a detailed description of ectoderm-specific developmental programs, including pan-ectodermal programs, prominence- specific programs and their temporal dynamics. The genes and pathways represented in these programs provide mechanistic insights into several aspects of ectodermal development. We also used these data to identify co-expression modules specific to facial development. We then used 14 co-expression modules enriched for genes involved in orofacial clefts to make specific mechanistic predictions about genes involved in tongue specification, in nasal process patterning and in jaw development. Our multidimensional gene expression dataset is a unique resource for systems analysis of the developing face; our co-expression modules are a resource for predicting functions of poorly annotated genes, or for predicting roles for genes that have yet to be studied in the context of facial development; and our analytic approaches provide a paradigm for analysis of other complex developmental programs.

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Section: Introductionmentioning

confidence: 99%

Systems biology of facial development: contributions of ectoderm and mesenchyme

Hooper

Feng

et al. 2017

Developmental Biology

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“…The nasal placode develops within the epithelium of the frontonasal process beginning around embryonic day (E) 9.5 of mouse embryo development, and represents the first step in nasal cavity formation (Kurosaka, 2015;Suzuki, Sangani, Ansari, & Iwata, 2016). Subsequently, the medial nasal, lateral nasal, and maxillary processes grow and fuse (Jiang, Bush, & Lidral, 2006).…”

Section: Development Of Nasal Cavity and Continuous Airwaymentioning

confidence: 99%

Choanal atresia and stenosis: Development and diseases of the nasal cavity

Kurosaka

2018

WIREs Developmental Biology

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Proper craniofacial development in vertebrates depends on growth and fusion of the facial processes during embryogenesis. Failure of any step in this process could lead to craniofacial anomalies such as facial clefting, which has been well studied with regard to its molecular etiology and cellular pathogenesis. Nasal cavity invagination is also a critical event in proper craniofacial development, and is required for the formation of a functional nasal cavity and airway. The nasal cavity must connect the nasopharynx with the primitive choanae to complete an airway from the nostril to the nasopharynx. In contrast to orofacial clefts, defects in nasal cavity and airway formation, such as choanal atresia (CA), in which the connection between the nasal airway and nasopharynx is physically blocked, have largely been understudied. This is also true for a narrowed connection between the nasal cavity and the nasopharynx, which is known as choanal stenosis (CS). CA occurs in approximately 1 in 5,000 live births, and can present in isolation but typically arises as part of a syndrome. Despite the fact that CA and CS usually require immediate intervention, and substantially affect the quality of life of affected individuals, the etiology and pathogenesis of CA and CS have remained elusive. In this review I focus on the process of nasal cavity development with respect to forming a functional airway and discuss the cellular behavior and molecular networks governing this process. Additionally, the etiology of human CA is discussed using examples of disorders which involve CA or CS. This article is categorized under: Signaling Pathways > Cell Fate Signaling Comparative Development and Evolution > Model Systems Birth Defects > Craniofacial and Nervous System Anomalies

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“…Und Und translocate into the nucleus; the factor is otherwise degraded [7]. The Wnt pathway is involved in a variety of embryogenic and developmental events, similar to the SHH pathway.…”

Section: Wnt9bmentioning

confidence: 99%

“…In particular, Bmp4 cKO mice show clefting of the lip, both uni-and bilaterally [6]. Understandably, BMP receptors play a role in orofacial clefting as well; in addition, there is a distinct involvement in tooth morphogenesis for BMP receptors, notably Bmpr1a [7]. This molecule and its related receptors have an essentially unparalleled significance in the etiologic pathogenesis of CL/P.…”

Section: Tgf Beta (Tgfβ) Signaling Pathwaymentioning

confidence: 99%

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A Review of Orofacial Clefting and Current Genetic Mouse Models

Keteyian¹,

Mishina²

2017

Designing Strategies for Cleft Lip and Palate Care

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The prevalence of orofacial clefts (OFCs) is nearly 10.2 per 10,000 births in the United States and 9.9 per 10,000 births worldwide. OFCs occur as a result of a break (nonfusion) of orofacial structures during development. This can occur due to a variety of reasons;prenatal exposure to many drugs and environmental factors as well as genetic factors which are implicated in the development of OFCs. While approximately 15 types of clefts have been identified, there are at least four distinct classifications of OFCs. These include complete cleft palate with cleft lip; cleft of the anterior palate, which may/may not involve cleft lip; cleft of the posterior palate; and submucosal cleft. A number of candidate genes have been identified, including transforming growth factor beta (TGFβ) and homeobox genes (e.g., MSX1), among many others. What follows is a review of mouse models currently used in research and the classification of their overall contribution to known OFCs.

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Molecular mechanisms of midfacial developmental defects

Cited by 60 publications

References 155 publications

Systems biology of facial development: contributions of ectoderm and mesenchyme

Systems biology of facial development: contributions of ectoderm and mesenchyme

Choanal atresia and stenosis: Development and diseases of the nasal cavity

A Review of Orofacial Clefting and Current Genetic Mouse Models

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