Genetic analysis of voltage-dependent calcium channels.
Molecular cloning of calcium channel subunit genes has identified an unexpectedly large number of genes and splicing variants, and a central problem of calcium channel biology is to now understand the functional significance of this genetic complexity. While electrophyisological, pharmacological, and molecular cloning techniques are providing one level of understanding, a complete understanding will require many additional kinds of studies, including genetic studies done in intact animals. In this regard, an intriguing variety of episodic diseases have recently been identified that result from defects in calcium channel genes. A study of these diseases illustrates the kind of insights into calcium channel function that can be expected from this method of inquiry.
Fletcher
C F
CF
Mammalian Genetics Laboratory, ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Maryland 21702-1201, USA.
Copeland
N G
NG
Jenkins
N A
NA
D000818:Animals; D017173:Caenorhabditis elegans / Q000235:genetics / Q000378:metabolism; D015220:Calcium Channels / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D020746:Calcium Channels, L-Type; D020864:Calcium Channels, N-Type; D003001:Cloning, Molecular; D004331:Drosophila melanogaster / Q000235:genetics / Q000378:metabolism; D005260:Female; D005796:Genes; D005804:Genes, Lethal; D015801:Helminth Proteins / Q000235:genetics / Q000502:physiology; D006801:Humans; D019476:Insect Proteins / Q000235:genetics / Q000502:physiology; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics; D051379:Mice; D008958:Models, Molecular; D005810:Multigene Family; D009135:Muscular Diseases / Q000235:genetics; D017696:Myopathies, Nemaline / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D010245:Paralyses, Familial Periodic / Q000235:genetics; D011487:Protein Conformation; D012326:RNA Splicing; D019837:Ryanodine Receptor Calcium Release Channel / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D013312:Stress, Physiological / Q000235:genetics / Q000662:veterinary; D013329:Structure-Activity Relationship; D013552:Swine; D013553:Swine Diseases / Q000235:genetics
D015220:Calcium Channels; D020746:Calcium Channels, L-Type; D020864:Calcium Channels, N-Type; D015801:Helminth Proteins; D019476:Insect Proteins; D009419:Nerve Tissue Proteins; D019837:Ryanodine Receptor Calcium Release Channel