Calcium channels genes

Ikeuchi, T., Takano, H., Koide, R. et al Spinocerebellar ataxia type 6 CAG repeat expansion in alA voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann. Neurol 42 879-884,1997. 

Seisenberger C, Specht V, Welling A, Platzer J, Pfeifer A, Kuhbandner S, Striessnig J, Klugbauer N, Feil R, Hofmann F. 2000. Functional embryonic cardiomyocytes after disruption of the L-type alpha 1C (Cavl.2) calcium channel gene in the mouse. J. Biol. Chem., 275 39193—9. 

Doyle J, Ren X, Lennon G, Stubbs L (1997) Mutations in the Cacnlla4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice. Mamm Genome 8 113-20... 

Mansergh F, Orton NC, Vessey JP, Lalonde MR, Stell WK, Tremblay F, Barnes S, Rancourt DE, Bech-Hansen NT (2005) Mutation of the calcium channel gene Cacnalf disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. Hum Mol Genet 14 3035 16... 

Zwingman TA, Neumann PE, Noebels JL, Herrup K (2001) Rocker is a new variant of the voltage-dependent calcium channel gene Cacnala. J Neurosci 21 1169-78... 

Many factors can interact with dmgs to make this problem worse. These include genetic factors, such as mutations in sodium, potassium and calcium channel genes that predispose people to repolarization failure [11-13]. This is the main explanation for the fact that dmgs with this side-effect have it in only a small fraction of the population. In principle, it should become possible to screen for such genetic predispositions to exclude such patients in clinical trials and to avoid treating them with drugs that interact in this way (Fig. 9.2). 

Bourinet E, Alloui A, Monteil A et al. (2004) Silencing of the Cav3.2 T-type calcium channel gene in sensory neurons demonstrates its major role in nociception. EMBO J 24(2) 315—324... 

Yue Q, Jen JC, Nelson SF, Balo RW 1997 Progressive ataxia due to a missense mutation in a calcium channel gene. Am J Hum Genet 61 1078—1087... 

Del Toro R, Levitsky KL, Lopez-Barneo J, Chiara MD. 2003. Induction of T-type calcium channel gene expression by chronic hypoxia. J Biol Chem 278 22316-22324. 

Giannini, G., Conti, A, Manunarella, S., Scrobogna, M., and Sorrentino, V. (1995) The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues. Journal of Cell Biology, 128 893-904. 

HVA calcium channels are biochemically hetero-oligomeric complexes of five proteins encoded by four gene families (Fig. 1) The ax subunits of 190-250 kDa contain the voltage-sensor, the selectivity filter, the ion-conducting pore, the binding sites for most calcium... 

More recent analysis of tissue specific gene deletions showed that the Cav1.2 channel is involved in a wide variety of function including hippocampal learning, insulin secretion, intestine and bladder motility. Further analysis will be required to unravel the functional significance of voltage-dependent calcium channels for specific cellular functions. 

Lacinova L, Klugbauer N, Hofmann F (2000) Low voltage activated calcium channels from genes to function. Gen Physiol Biophys 19 121-136... 

Dreyer EB, Kaiser PK, Offermann JT, Lipton SA (1990) HIV-1 coat protein neurotoxicity prevented by calcium channel antagonists. Science 248(4953) 364-367 Dreyer EB, Zurakowski D, Gorla M, Vorwerk CK, Lipton SA (1999) The contribution of various NOS gene products to HlV-1 coat protein (gpl20)-mediated retinal ganglion cell injury. Invest Ophthalmol Vis Sci 40(5) 983-989... 

Ten specific mammalian calcium channel subtypes have been identified based on the sequence of their membrane pore-forming oq subunit. As illustrated in Table 1, calcium channels may be individually identified by their oq subunit, or more commonly using a systematic nomenclature based on a gene subfamily (Cavl-Cav3) and the order of discovery of the oq subunit (e.g., Cavl.l-Cav 1.4) [7]. 

Voets T, Prenen J, Fleig A et al 2001 CaTl and the calcium-release activated calcium channel manifest distinct pore properties. J Biol Chem 276 47767-47770 Walker RL, Hume JR, Horowitz B 2001 Differential expression and alternative splicing of TRP channel genes in smooth muscles. Am J Physiol 280 0184-0192 Yue L, Peng J-B, Hediger MA, Clapham DE 2001 CaTl manifests the pore properties of the calcium-release-activated calcium channel. Nature 410 705—709... 

Arii T, Ohyanagi M, Shibuya J, Iwasaki T 1999 Increased function of the voltage-dependent calcium channels, without increase of Ca2+ release from the sarcoplasmic reticulum in the arterioles of spontaneous hypertensive rats. Am J Hypertens 12 1236-1242 Attree O, Olivos IM, Okabe I et al 1992 The Lowe s oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358 239-242 Brading AF, Turner WH 1994 The unstable bladder towards a common mechanism. Br J Urol 73 3-8... 

Zhang L, Liu Y, Song F et al (2011) Functional SNP in the microRNA-367 binding site in the 3 UTR of the calcium channel ryanodine receptor gene 3 (RYR3) affects breast cancer risk and calcification. Proc Nad Acad Sci USA 108 13653-13658... 

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