The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data

Eric Van Otterloo; Trevor Williams; Kristin Bruk Artinger

doi:10.1016/j.ydbio.2016.01.017

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The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data

Journal article

Open access

Peer reviewed

The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data

Eric Van Otterloo, Trevor Williams and Kristin Bruk Artinger

Developmental biology, Vol.415(2), pp.171-187

07/15/2016

DOI: 10.1016/j.ydbio.2016.01.017

PMCID: PMC4914413

PMID: 26808208

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https://doi.org/10.1016/j.ydbio.2016.01.017View

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Abstract

The craniofacial skeletal structures that comprise the human head develop from multiple tissues that converge to form the bones and cartilage of the face. Because of their complex development and morphogenesis, many human birth defects arise due to disruptions in these cellular populations. Thus, determining how these structures normally develop is vital if we are to gain a deeper understanding of craniofacial birth defects and devise treatment and prevention options. In this review, we will focus on how animal model systems have been used historically and in an ongoing context to enhance our understanding of human craniofacial development. We do this by first highlighting "animal to man" approaches; that is, how animal models are being utilized to understand fundamental mechanisms of craniofacial development. We discuss emerging technologies, including high throughput sequencing and genome editing, and new animal repository resources, and how their application can revolutionize the future of animal models in craniofacial research. Secondly, we highlight "man to animal" approaches, including the current use of animal models to test the function of candidate human disease variants. Specifically, we outline a common workflow deployed after discovery of a potentially disease causing variant based on a select set of recent examples in which human mutations are investigated in vivo using animal models. Collectively, these topics will provide a pipeline for the use of animal models in understanding human craniofacial development and disease for clinical geneticist and basic researchers alike.

Animals

Chick Embryo

Craniofacial Abnormalities - embryology

Craniofacial Abnormalities - genetics

Databases, Factual

Disease Models, Animal

Enhancer Elements, Genetic

Forecasting

Gene Expression Regulation, Developmental - genetics

Genetic Association Studies

Head - embryology

Humans

Maxillofacial Development - genetics

Mice

Mutagenesis

Mutation

Neural Crest - embryology

Species Specificity

Xenopus

Zebrafish

Zebrafish Proteins - genetics

Zebrafish Proteins - physiology

Details

Title: Subtitle: The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data
Creators: Eric Van Otterloo - University of Colorado Anschutz Medical Campus
Trevor Williams - University of Colorado Anschutz Medical Campus
Kristin Bruk Artinger - University of Colorado Anschutz Medical Campus
Resource Type: Journal article
Publication Details: Developmental biology, Vol.415(2), pp.171-187
DOI: 10.1016/j.ydbio.2016.01.017
PMID: 26808208
PMCID: PMC4914413
NLM abbreviation: Dev Biol
ISSN: 0012-1606
eISSN: 1095-564X
Grant note: R01 DE024034 / NIDCR NIH HHS R01 HD081562 / NICHD NIH HHS F32 DE023709 / NIDCR NIH HHS U01 DE024429 / NIDCR NIH HHS
Language: English
Date published: 07/15/2016
Academic Unit: Anatomy and Cell Biology; Craniofacial Anomalies Research Center; Dental Research; Periodontics
Record Identifier: 9984284356102771

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