Utilizing <i>C. elegans</i> Spermatogenesis and Fertilization Mutants as a Model for Human Disease
The nematode <i>C. elegans</i> is a proven model for identifying genes involved in human disease, and the study of <i>C. elegans</i> reproduction, specifically spermatogenesis and fertilization, has led to significant contributions to our understanding of cellular function. A...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-01-01
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| Series: | Journal of Developmental Biology |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2221-3759/13/1/4 |
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| Summary: | The nematode <i>C. elegans</i> is a proven model for identifying genes involved in human disease, and the study of <i>C. elegans</i> reproduction, specifically spermatogenesis and fertilization, has led to significant contributions to our understanding of cellular function. Approximately 70 genes have been identified in <i>C. elegans</i> that control spermatogenesis and fertilization (<i>spe</i> and <i>fer</i> mutants). This review focuses on eight genes that have human orthologs with known pathogenic phenotypes. Using <i>C. elegans</i> to study these genes has led to critical developments in our understanding of protein domain function and human disease, including understanding the role of <i>OTOF</i> (the ortholog of <i>C. elegans fer-1</i>) in hearing loss, the contribution of the <i>spe-39</i> ortholog <i>VIPAS39</i> in vacuolar protein sorting, and the overlapping functions of <i>spe-26</i> and <i>KLHL10</i> in spermatogenesis. We discuss the cellular function of both the <i>C. elegans</i> genes and their human orthologs and the impact that <i>C. elegans</i> mutants and human variants have on cellular function and physiology. Utilizing <i>C. elegans</i> to understand the function of the genes reviewed here, and additional understudied and undiscovered genes, represents a unique opportunity to understand the function of variants that could lead to better disease diagnosis and clinical decision making. |
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| ISSN: | 2221-3759 |