biostudies-literatureGreaser MLNHLBI NIH HHS983-991https://www.ebi.ac.uk/biostudies/studies/S-EPMC2501117biostudies-literatureUnknown44(6)Titin is a very large alternatively spliced protein that performs multiple functions in heart and skeletal muscles. A rat strain is described with an autosomal dominant mutation that alters the isoform expression of titin. While wild type animals go through a developmental program where the 3.0 MDa N2B becomes the major isoform expressed by two to three weeks after birth (approximately 85%), the appearance of the N2B is markedly delayed in heterozygotes and never reaches more than 50% of the titin in the adult. Homozygote mutants express a giant titin of the N2BA isoform type (3.9 MDa) that persists as the primary titin species through ages of more than one and a half years. The mutation does not affect the isoform switching of troponin T, a protein that is also alternatively spliced with Journal of molecular and cellular cardiologyMutation that dramatically alters rat titin isoform expression and cardiomyocyte passive tension.PMC2501117R37 HL082900R01 HL077196R37 HL82900R01 HL77196Dunning SEsbona KParrish AMWarren CMGuo WFitzsimons DPKrzesinski PRMoss RLGreaser MLNorman HSDuan YfalseMutation that dramatically alters rat titin isoform expression and cardiomyocyte passive tension.Titin is a very large alternatively spliced protein that performs multiple functions in heart and skeletal muscles. A rat strain is described with an autosomal dominant mutation that alters the isoform expression of titin. While wild type animals go through a developmental program where the 3.0 MDa N2B becomes the major isoform expressed by two to three weeks after birth (approximately 85%), the appearance of the N2B is markedly delayed in heterozygotes and never reaches more than 50% of the titin in the adult. Homozygote mutants express a giant titin of the N2BA isoform type (3.9 MDa) that persists as the primary titin species through ages of more than one and a half years. The mutation does not affect the isoform switching of troponin T, a protein that is also alternatively spliced with 2008-01-01T00:00:00Z2008 Jun2026-04-08T00:26:12.818Z2019-03-27T00:16:07ZS-EPMC25011171838763010.1016/j.yjmcc.2008.02.272