The 5'-end of the porcine perinatal myosin heavy chain gene shows alternative splicing and is clustered with repeat elements.

The porcine perinatal myosin heavy chain (MyHC) is a major isoform in foetal skeletal muscles. We report here on its cDNA and genomic isolation, molecular characterisation and expression. Exon 2 and the first 4 bases of exon 3 of the perinatal MyHC gene. both part of the 5'-end untranslated region, showed differential splicing. About 2% of all perinatal MyHC transcripts of a 50-day-old foetus were without exon 2 and about half were without the 4 bases at the 5'-end of exon 3. Perinatal MyHC mRNA was expressed in all hind limb muscles of a 45-day-old foetus along with the slow and embryonic MyHC isoforms in the same fibres. Unlike other sarcomeric MyHCs reported to date, the porcine perinatal promoter is clustered with repeat elements (4 SINEs and 1 microsatellite) and is without a consensus TATA box at the predicted site upstream of exon 1. Nonetheless, in reporter gene transfections, its promoter was found to be highly muscle-specific. The absence of a TATA box may point to a fundamental difference in the regulatory function between the perinatal and adult MyHC isoforms.