Genetic and developmental mechanisms that underlie craniofacial (co)variation

NIH RePORTER · DE · R01 · $357,611 · view on reporter.nih.gov ↗

Abstract

Abstract/Summary: The vertebrate craniofacial skeleton is a dynamic organ that arises and is maintained through an intricate balance of genetic and environmental inputs. Disruptions to either can lead to deleterious health outcomes. While significant progress has been made toward understanding the genetic and cellular mechanisms that underlie early craniofacial patterning, much less is known about the basis for craniofacial variation that manifests over extended periods of development, and depends upon the environmental context in which it occurs. Whether it's the physical interactions between cells and tissues within the developing embryo, or the mechanic forces imposed on the system, these contexts will determine how genetically-encoded systems unfold over time to determine craniofacial geometry. Implicit to these ideas is feedback in the system. Feedback is how disparate developmental units come together to form integrated functional systems - e.g., reciprocal signaling between adjacent but developmentally distinct tissues. It is also necessary for normal growth and homeostasis in kinetic systems - e.g., progenitor cells must sense environmental inputs, including mechanical load, and adjust developmental processes accordingly. Broadly speaking this proposal seeks to understand how both types of feedback are regulated at the genetic level. In doing so, three specific questions will be addressed: (1) What are the genes that contribute to craniofacial shape? (2) Do they exert their effects on more than one tissue, either via pleiotropy or as part of the same signaling pathway? (3) How do these loci interact with the environment, via mechanosensing, to affect variation in facial form? Cichlid fishes will be used as the experimental model, as they have undergone extensive evolutionary modifications of their skulls and jaws in a very brief period of time, making them ideal for genetic/genomic mapping. Cichlids are also well known for their capacity to remodel their j

Key facts

NIH application ID
11231251
Project number
5R01DE026446-09
Recipient
UNIVERSITY OF MASSACHUSETTS AMHERST
Principal Investigator
Craig Albertson
Activity code
R01
Funding institute
DE
Fiscal year
2026
Award amount
$357,611
Award type
5
Project period
2017-01-01T00:00:00 → 2027-11-30T00:00:00