Skipping of Exons by Premature Termination of Transcription and Alternative Splicing Within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant

The study identified a novel splice variant of the sheep SCF gene caused by premature termination of transcription and alternative splicing within intron-5. Researchers used RT-PCR, RACE-PCR, and Northern blot analysis to discover and characterize two cDNA products: a full-length 1519 bp cDNA encoding a 274 amino acid precursor protein (soluble isoform) and a shorter 835/725 bp cDNA encoding a truncated 181 amino acid protein. This variant lacked the primary proteolytic segment necessary for producing the soluble form of SCF. The findings provided new insights into the genetic regulation and complexity of the SCF gene, particularly in the context of hair follicle melanogenesis in sheep, and highlighted the importance of alternative splicing in generating protein diversity.