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Assessing Species-specific Contributions To Craniofacial Development Using Quail-duck Chimeras

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Published on: May 31, 2014

Developmental mechanisms underlying variation in craniofacial disease and evolution.

Jennifer L Fish¹

¹University of Massachusetts Lowell, Department of Biological Sciences, 198 Riverside Street, Olsen Hall, Room 619, Lowell, MA 01854, United States.

Developmental Biology

|January 3, 2016

Summary

Developmental biology explains variations in craniofacial disease severity. Understanding how genetic changes affect developmental processes can improve diagnosis and treatment for craniofacial anomalies.

Keywords:

Cranial neural crest Craniofacial anomalies Evolution of development Morphological variation Satb2

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Area of Science:

Evolutionary developmental biology
Genetics
Developmental biology

Background:

Craniofacial disease phenotypes show significant variation in penetrance and severity.
Genetic contributions to phenotypic variation are known, but genotype-phenotype correlations are imprecise.
Evolutionary developmental biology offers insights into developmental mechanisms explaining these incongruities.

Purpose of the Study:

To review how development structures variation in craniofacial phenotypes.
To highlight how developmental processes mediate genotype-phenotype correlations.
To suggest future research directions in evolutionary developmental biology for craniofacial anomalies.

Main Methods:

Review of comparative and experimental animal model systems.
Discussion of developmental mechanisms underlying phenotypic variation.
Examination of Satb2-mediated variation in jaw size as a case study.

Main Results:

Multiple genetic inputs converge on a limited number of developmental processes.
Genetic mutations typically increase phenotypic variance.
Development is a critical mediator of genotype-phenotype correlations.

Conclusions:

Investigating variation in developmental processes can predict genetic interactions and phenotypic outcomes.
Understanding developmental mechanisms can elucidate the genotype-phenotype relationship.
Future research may lead to novel treatments, earlier diagnoses, and better clinical consultations for craniofacial anomalies.