# Distinguishing the role of ERC1 isoforms in membrane trafficking during craniofacial and neuronal development

> **NIH NIH F31** · VANDERBILT UNIVERSITY · 2021 · $31,551

## Abstract

Project Summary/Abstract
Membrane trafficking is an essential cellular mechanism contributing to cell shape changes and tissue integrity
during development. Mutations impairing proper trafficking can result in developmental disorders, affecting
both craniofacial morphology and neurologic function. Clinical reports have identified both craniofacial
phenotypes and neurodevelopmental disorders associated with distal chromosome 12 deletions. ERC1 (ELKS,
Rab6IP2, CAST), a regulator of membrane trafficking, is found within the smallest region of overlap between
deleted chromosome 12 regions. However, a role for ERC1 in regulating craniofacial and neuronal
development has not been easy to determine, particularly due to multiple alternatively spliced ERC1 isoforms.
Human ERC1 isoforms are reported to be differentially expressed, and therefore, could have distinct cellular
function. Unlike other vertebrate models, zebrafish have two paralogous erc1 genes, erc1a and erc1b, both of
which are homologous to alternatively spliced human ERC1 isoforms. By forward genetics screen or
CRISPR/Cas9 genome editing in zebrafish, we propose to examine the role of erc1 paralogs in craniofacial
cartilage and brain morphology during development. The aims of this project are to a) identify zebrafish erc1
paralogs’ function in craniofacial cartilage and neural tissue morphology during development, and b) determine
Erc1 paralogs’ function in establishing cell shape and cell survival through Rab GTPase interaction during
development. This project uses in vivo vertebrate animal modeling and imaging techniques to map distinct
functional contribution of human ERC1 isoforms to craniofacial and neuronal development. Investigating the
molecular function of separate ERC1 isoforms in cell shape and survival during development will provide
insight into a cellular basis to craniofacial dysmorphology and neurodevelopmental disorder comorbidity
occurring in patients with distal chromosome 12 deletions.

## Key facts

- **NIH application ID:** 10146341
- **Project number:** 5F31DE028467-03
- **Recipient organization:** VANDERBILT UNIVERSITY
- **Principal Investigator:** Lauryn N Luderman
- **Activity code:** F31 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $31,551
- **Award type:** 5
- **Project period:** 2019-06-01 → 2022-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10146341

## Citation

> US National Institutes of Health, RePORTER application 10146341, Distinguishing the role of ERC1 isoforms in membrane trafficking during craniofacial and neuronal development (5F31DE028467-03). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10146341. Licensed CC0.

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