Molecular tools to elucidate problems in excitation-contraction coupling.
In this review, constituting the 1990 International Lecture of the Biophysical Society, research is described in two areas in which molecular genetic techniques were used to dissect problems related to sarcoplasmic reticulum proteins: the use of site-directed mutagenesis to gain insight into the mechanism of Ca2+ transport by the Ca2(+)-ATPase; and the use of cloning and genetic linkage analysis to identify the Ca2+ release channel (RYR1) gene as a candidate gene for the predisposition to malignant hyperthermia, a neuromuscular disease of humans and domestic animals.
MacLennan
D H
DH
Banting and Best Department of Medical Research, Charles H. Best Institute, University of Toronto, Ontario, Canada.
D000595:Amino Acid Sequence; D000818:Animals; D015220:Calcium Channels / Q000235:genetics; D000252:Calcium-Transporting ATPases / Q000235:genetics / Q000378:metabolism*; D008969:Molecular Sequence Data; D009119:Muscle Contraction; D016297:Mutagenesis, Site-Directed; D011487:Protein Conformation; D012519:Sarcoplasmic Reticulum / Q000502:physiology*
D015220:Calcium Channels; D000252:Calcium-Transporting ATPases