Cell Antenna, 'Seommo' Gene for Proper Formation Identified... UNIST Professor Park Taeju's Team Discovers New Gene

Mechanism of action of GJA1 protein. After Rab11 protein accumulates, CP110 protein is removed, leading to cilia growth_GJA1 regulates the movement of Rab11 to the ciliary base.

[Asia Economy Yeongnam Reporting Headquarters Reporter Hwang Dooyul] The gene responsible for producing cilia and its operating mechanism have been identified, opening up possibilities for alleviating or treating congenital genetic disorders known as ciliopathies.

Professor Taeju Park's team from the Department of Life Sciences at UNIST has discovered new genes and mechanisms essential for the formation and function of various cilia.

The newly identified gene is the ‘GJA1 (Gap junction protein alpha 1) gene,’ which encodes one of the proteins constituting gap junctions?tube-like protein complexes that connect cells.

This gene has been found to be necessary for the formation and proper functioning of both primary cilia and motile cilia.

Cilia are present in most cells and play a crucial role throughout life activities, from embryonic development to maintaining bodily homeostasis.

Primary cilia act as antennas sensing external cellular signals, while motile cilia regulate the flow of surrounding fluids. For example, the fluid flow that helps expel phlegm in the bronchial tubes originates from motile cilia.

According to the study, gap junction proteins are present in cilia and their basal bodies, and abnormalities in the GJA1 protein cause structural and functional defects in both primary and motile cilia.

Furthermore, ciliopathies caused by abnormal cilia structure or function were observed in African clawed frogs where the GJA1 gene was suppressed.

These include severe diseases such as heterotaxia, where the left-right asymmetry of the heart is reversed due to defects in motile cilia of the epidermis or problems with primary cilia.

Jang Donggil, the first author and a researcher in the Department of Life Sciences at UNIST, explained, “Gap junctions were known only as channels for material transfer between adjacent cells, but some gap junction proteins were found in cilia-specific proteomics analysis, prompting this research. The results revealed that gap junction proteins are necessary for the formation and function of all cilia, including primary cilia.”

The research team also identified a pathway involving GJA1 protein that regulates the movement of Rab 11 protein, which is known to be essential in the formation process of primary cilia.

Before the microtubules of cilia grow, Rab 11 proteins accumulate at the ciliary base, and through a series of processes, the CP110 protein?which acts as a cap at the ciliary base?must be removed to allow microtubule growth.

Professor Taeju Park stated, “This study revealed that gap junction proteins, previously thought unrelated to cilia, are genes necessary for the formation and function of various cilia. We also discovered new mechanisms related to ciliopathies and found that some symptoms of genetic diseases caused by gap junction abnormalities originate from ciliary defects.”

The research was supported by the Mid-career Researcher Support Program of the National Research Foundation of Korea and the Institute for Basic Science (IBS). The results were first published online on August 25 in the international journal ‘eLife’ and are currently undergoing final editorial review.

In front of the Developmental Biology Laboratory in the Department of Life Sciences at UNIST, corresponding author Professor Taeju Park (fourth from the left) and first author Dr. Donggil Jang (first from the right), along with researchers, are taking a commemorative photo.

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