- Roller phenotype - 14 different genes
- These genes are involved in both movement and development processes
- Defective cuticle causes the roller phenotype
- The nematode cuticle is a complex, highly structured extra-cellular matrix composed of collagens, proteins, glycoproteins, and lipids.
- Due to the numerous life stages of the organism, this cuticle must be recreated multiple times during development – failure to successfully produce the cuticle can cause numerous mutations, not just roller (Page, Johnstone).
- The cuticle is multifunctional: it provides protection from the environment, structure for the organism’s morphology, and is critical to the movement of the organism (Page, Johnstone).
- Many of the genes causing the roller mutation have human analogs
- The rol-1 gene of C. elegans is analogous to the human COL10A1 gene which causes a type of dwarfism. A mutation in rol-1 causes a 1/2 clockwise rolling mutation.
- The rol-6 gene of C. elegans is analogous to the human COL3A1 gene which causes a severe collagen depletion leading to thin blood vessels and organ rupture. A mutation in the rol-6 causes C. elegans to have loops in its alae, have deranged annulae, and causes its internal organs to be completely twisted twice about its long axis.
- The prevalence of human homology in the corresponding genes to the roller phenotype illustrates how useful research in the movement pathway is.
- Understanding how these genes affect C. elegans will help us better understand how the homologs present in our genome affect us.
- With such similarity between nematode and human movement genes, we can gain a better understanding of the genetic disorders resulting from these newly understood mutations.