By K. Maruyama (auth.)
Comparative features of muscle elastic proteins.- The titin cDNA series and partial genomic sequences: insights into molecular genetics, phone biology and body structure of the titin filament system.- The physiological function of titin in striated muscle.- keep an eye on of sarcomeric meeting: the circulate of data on titin.- The elastic filament method in myogenesis.- constitution and meeting of the sarcomeric M band.-The C-protein kin: regulators of contraction and sarcomere formation?- The genetics and molecular biology of the titin/connectin-like proteins of invertebrates.
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Comparative facets of muscle elastic proteins. - The titin cDNA series and partial genomic sequences: insights into molecular genetics, telephone biology and body structure of the titin filament procedure. - The physiological function of titin in striated muscle. - regulate of sarcomeric meeting: the stream of data on titin.
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9. Top: Exon-intron organization of the titin gene at its 3' end (from Kolmerer et al. 1996b). The sequenced 20 kb partial genomic titin sequence contains 23 exons. For 21 exons, the junctions with intron sequences locate at domain junctions; only the two exons Mex2 and Mex4 correspond to the N-terminal and C-terminal halfs, repectively, of an Ig repeat. The correlation of exon-intron organization with the modular organization of the titin protein raises the possibility that functional titin isoforms may be generated by shuffling of domains as a consequence of alternative splicing events.
Skeletal muscle tissues containing predominantly fast fibers (psoas, longissimus dorsi, extensor digitorum longus) express the four-Zrepeat variant. Cardiac tissues (left ventricle, right ventricle, left atrium) express mainly the seven-Z-repeat version. Other muscle tissues mostly co-express mixtures of a four-repeat and of a six-repeat isoform. Bottom: Developmental regulation of the cardiac Z-repeat copy number. Total cDNAs obtained from human fetal (F) and human adult (A) heart cDNA libraries were amplified with a primer pair flanking the Z-repeat region (a) and with a primer pair within the Z-repeat region (b).
1995), the cardiac C-protein gene has emerged as a candidate for the sought-after fourth gene which is involved in the genesis of FHC. Several groups have now confirmed that mutations are indeed present in the cardiac C-protein gene in the lip-linked FHC families (Bonne et al. 1995; Watkins et al. 1995; Carrier et al. 1997; Rottbauer et al. 1997). 5 kb cardiac C-protein mRNA has been reported (Carrier et al. 1997). This accomplishment will greatly facilitate future searches for mutations in the cardiac C-protein gene (Fig.
Reviews of Physiology, Biochemistry and Pharmacology by K. Maruyama (auth.)