Developmental processes regulate craniofacial variation in disease and evolution. Issue 1 (1st October 2018)

• Record Type: Journal Article
• Authors: Merkuri, Fjodor; Fish, Jennifer L.
• Other Names: Brugmann Samantha A. guestEditor.
• Is Part Of: Genesis. Volume 57:Issue 1(2019)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2018-10-01
• Subjects: craniofacial anomalies -- evolution of development -- genotype–phenotype relationships -- morphological variation -- ribosomopathies -- spliceosomopathies; Developmental genetics -- Periodicals; Genetics -- Periodicals; Developmental biology -- Periodicals; Embryology -- Periodicals; Genetic regulation -- Periodicals; 576.5
• DOI: 10.1002/dvg.23249
• Languages: English
• ISSNs: 1526-954X

Abstract

Summary: 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.