Disease relevance of SmD3

• Mutations in guf cause defects in growth cone guidance and fasciculation and loss of expression of several neuronal markers in the embryonic peripheral and central nervous systems. guf is required for terminal differentiation of neuronal cells [1].

High impact information on SmD3

• In the reverse orientation, within one of the introns of the Drosophila antizyme gene, the gene for snRNP Sm D3 is located [2].
• Previously, it was shown that two closely linked P-element transposon insertions caused the gutfeeling phenotype of embryonic lethality and aberrant neuronal and muscle cell differentiation [2].
• However, the exact nature of the gene(s) affected in the gutfeeling phenotype remained unknown [3].
• In the absence or guf activity, myoblasts are formed properly, but myoblast fusion and further differentiation of muscle fibers is severely impaired [1].
• The gutfeeling (guf) gene was uncovered in a genetic screen for genes that are required for proper development of the embryonic peripheral nervous system [1].

Biological context of SmD3

• The Drosophila gene for antizyme requires ribosomal frameshifting for expression and contains an intronic gene for snRNP Sm D3 on the opposite strand [2].

References