Work

Developmental processes regulate craniofacial variation in disease and evolution

Year: 2018

Type: review

Abstract: Variation in development mediates phenotypic differences observed in evolution and disease. Although the mechanisms underlying phenotypic variation are still largely unknown, recent research suggests that variation in developmental processes may play a key role. Developmental processes mediate genotype-phenotype relationships and consequently play an important role regulating phenotypes. In this review, we provide an example of how shared and interacting developmental processes may explain convergence of phenotypes in spliceosomopathies and ribosomopathies. These data also suggest a shared pathway to disease treatment. We then discuss three major mechanisms that contribute to variation in developmental processes: genetic background (gene-gene interactions), gene-environment interactions, and developmental stochasticity. Finally, we comment on evolutionary alterations to developmental processes, and the evolution of disease buffering mechanisms.

Source: genesis

DOI: 10.1002/dvg.23249

Authors: Fjodor Merkuri, Jennifer L. Fish

Institution: University of Massachusetts Lowell

Language: English

Topic: Morphological variations and asymmetry

Subfield: Geometry and Topology

Field: Mathematics

Domain: Physical Sciences

Open Access status: green

Funders: National Institutes of Health, National Institute of Dental and Craniofacial Research

Awards: Molecular and cellular mechanisms underlying Satb2-mediated variation in craniofacial disease, The role of continuous phenotypic variation in structural defects of the face