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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Genomic and cellular context-dependent expression of the human ELMO1 gene transcript variants
Nobuyo Maeda1, Lauren S Taylor1, Melanie Nassar-Guifarro1
1Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Gene
|March 27, 2025
Summary
Engulfment and cell motility protein 1 (Elmo1) has multiple transcript variants, some epigenetically regulated. The short-form V2 protein is notably abundant in the brain, suggesting a specific role.
Area of Science:
- Molecular Biology
- Epigenetics
- Cell Biology
Background:
- Engulfment and cell motility protein 1 (Elmo1) is crucial for cell movement and implicated in various diseases.
- Limited information exists regarding the transcriptional regulation of Elmo1.
- Human ELMO1 gene exhibits at least five transcript variants, including full-length and truncated forms.
Purpose of the Study:
- To investigate the transcriptional regulation of human ELMO1.
- To characterize the different transcript variants and their promoters.
- To explore the epigenetic control mechanisms governing ELMO1 expression.
Main Methods:
- Bioinformatic analysis of genome databases to identify ELMO1 transcript variants and promoters.
- RT-qPCR to quantify individual transcript levels in various cell lines.
- Treatment of cell lines with epigenetic inhibitors (Trichostatin A and 5-Aza-2'-deoxycytidine) to assess regulatory effects.
Main Results:
- Distinct promoters (CpG island, LTR12, CAT-TATA) drive different ELMO1 transcript variants.
- Basal expression of most ELMO1 variants is low in cultured cells.
- Epigenetic inhibitors significantly upregulate multiple ELMO1 variants (V1, V4, V5, V2) in a cell-specific manner, indicating epigenetic regulation.
- An additional LTR12D transposon drives an unannotated transcript also responsive to inhibitors.
- ELMO1 V2 transcript levels are higher in the brain than V1, suggesting brain-specific regulation.
Conclusions:
- ELMO1 transcription is subject to complex regulation, including epigenetic mechanisms.
- The truncated Elmo1 V2 variant shows brain-specific expression, hinting at a specialized function.
- Understanding Elmo1 transcriptional regulation is key to its roles in health and disease.
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