# Genetic and developmental mechanisms of vertebrate craniofacial variation

> **NIH NIH F32** · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · 2020 · $71,230

## Abstract

PROJECT SUMMARY
 Craniofacial morphogenesis is a highly orchestrated and evolutionarily conserved developmental
process. In some cases, changes to the genes that underlie normal craniofacial variation across vertebrates
can cause anatomical defects in humans. Thus, a comprehensive understanding of the genetic and
developmental mechanisms of craniofacial diversity will provide important insights into human congenital
craniofacial disorders, which account for more than one third of all birth defects and often cause hearing loss,
speech impediment and intellectual disability.
 Among breeds of domestic pigeon, radical variation in beak morphology within a single species has
resulted from millennia of artificial selection. Preliminary genomic analyses support the results of classical
breeding experiments, which suggest that pigeon beak morphology is controlled by multiple genetic loci,
including at least one sex-linked factor. By comparing the genomes of small and medium beak pigeons, I have
identified two candidate genes, ROR2 and SMAD6, which encode members of the non-canonical Wnt and
BMP signaling pathways, respectively. In humans, mutations in these genes cause congenital craniofacial
disorders, including Robinow syndrome and Craniosynostosis. This project utilizes cross-disciplinary
approaches and complementary vertebrate models to understand the combinatorial function of specific genes
and signaling pathways during patterning of the vertebrate craniofacial skeleton. Furthermore, this project
takes advantage of the striking variation in beak morphology within domestic pigeons to identify the genetic
architecture of specific dimensions of craniofacial morphology, including the size and shape of individual bones
of the craniofacial skeleton.
 This project will pursue two distinct Aims. Aim 1 will test the individual and integrated molecular
functions of ROR2 and SMAD6 during vertebrate craniofacial morphogenesis. I will use a combination of
in situ hybridization (ISH) and RNA sequencing (RNA-seq) techniques to determine if differential expression of
ROR2 and/or SMAD6 and their respective signaling pathways are associated with variation in beak
morphology in avian embryos. In addition, I will employ genetic, developmental and live imaging approaches to
test the functional roles of ROR2 and SMAD6 during chick and zebrafish craniofacial morphogenesis. Aim 2
will identify specific genes associated with variation in the size and shape of individual bones of the
vertebrate craniofacial skeleton. I will perform quantitative trait locus (QTL) mapping in two pigeon F2
intercrosses to identify genomic loci that underlie variation in pigeon beak morphology. To complement the
genetic mapping experiments, I will leverage the Shapiro lab's extensive “pigeonomic” toolkit to fine map the
specific genes or DNA sequences within each QTL that are associated with dimensions of beak morphology.
These experiments will broadly define the genetic architecture of craniofa...

## Key facts

- **NIH application ID:** 9979840
- **Project number:** 5F32DE028179-03
- **Recipient organization:** UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH
- **Principal Investigator:** Elena Boer
- **Activity code:** F32 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $71,230
- **Award type:** 5
- **Project period:** 2018-08-01 → 2021-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9979840

## Citation

> US National Institutes of Health, RePORTER application 9979840, Genetic and developmental mechanisms of vertebrate craniofacial variation (5F32DE028179-03). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/9979840. Licensed CC0.

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