# Mapping the ciliary interactome, an extensive protein interaction network underlying human ciliopathies

> **NIH NIH R01** · UNIVERSITY OF TEXAS AT AUSTIN · 2021 · $578,838

## Abstract

SUMMARY
Cilia are essential organelles, with functions ranging from cell-cell signaling to the generation of homeostatic
fluid flow in tubular organs. Consequently, an array of human congenital diseases has been characterized as
“ciliopathies,” because they share an etiology of defective cilia structure or function. Despite clear roles in the
development of the central nervous system, limbs, axial skeleton, kidneys, airway, brain, and reproductive
tracts, our understanding of the mechanisms that govern ciliogenesis and cilia-mediated developmental
patterning remain incomplete, not least because hundreds of different proteins are required for proper cilia
biogenesis and function, acting via an extensive interaction network containing diverse proteins of unknown
function. We propose here to study several large multi-protein assemblies that are essential for proper cilia
formation in order to determine the roles of these complexes in key steps in ciliogenesis, including recruitment
of proteins to the basal body, intraflagellar transport and recruitment of specific intraflagellar cargoes. This
grant combines directed mechanistic experiments, proteomics, 3D modeling, in vivo cell biology, and testing of
human disease alleles in model organisms to understand mechanisms by which key ciliary proteins and their
interaction partners effect proper cilia formation, and how specific mutations in these genes lead to birth
defects. By focusing on proteins with demonstrated importance in development and disease, but for which no
mechanism of action is yet known, experiments proposed here will provide important new breadth and depth to
our understanding cilia-mediated developmental patterning and novel cell processes in ciliary biology. In turn,
these findings should provide greater insight to a range of congenital diseases ranging from the relatively mild
Oral-Facial-Digital syndrome to the wholly lethal Short Rib Polydactyly.

## Key facts

- **NIH application ID:** 10211608
- **Project number:** 2R01HD085901-06
- **Recipient organization:** UNIVERSITY OF TEXAS AT AUSTIN
- **Principal Investigator:** EDWARD M MARCOTTE
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $578,838
- **Award type:** 2
- **Project period:** 2016-09-05 → 2026-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10211608

## Citation

> US National Institutes of Health, RePORTER application 10211608, Mapping the ciliary interactome, an extensive protein interaction network underlying human ciliopathies (2R01HD085901-06). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10211608. Licensed CC0.

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