In mice, tissue-specific alternative splicing of the myosin V gene in the C-terminal tail domain is well documented with exclusion of exon F from brain transcripts, but present in skin, particularly in melanocytes. As alternative splicing of the myosin V C-terminal tail domain in human tissues is undocumented, we studied the presence of myosin V splice forms in different types of human cultured normal skin cells, i.e., dermal fibroblasts, melanocytes, and keratinocytes as well as in human blood leukocytes, using an RT-PCR-based method. In all cell types studied, several different length transcripts were present containing different exon combinations, including exon F. This is the first report showing the presence of exon F as well as alternative splicing in the human myosin V tail domain. As the full-length transcript is most abundant in melanocytes and leukocytes and both cell types are involved in Griscelli syndrome, a tissue-specific role of this particular transcript needs further investigation.
Copyright 1998 Academic Press.