![]() ![]() This is the first study reporting Hereditary Myotonia in pigs and characterizing its clinical and molecular findings. All myotonic pigs and their progenitors were homozygous recessive and heterozygous, respectively, for the 4,165-nucleotide deletion. Interestingly, non-related, non-myotonic pigs expressed transcriptional levels of an alternate transcript (i.e., X2) that was identical to the deleted X1 transcript of myotonic pigs. Analysis of the genomic region flanking the deletion unveiled a large intragenic deletion of 4,165 nucleotides. Nucleotide sequence analysis of the entire coding region of the CLCN1 gene revealed the absence of the exons 15 and 16 in myotonic animals. Clinically affected pigs presented non-dystrophic recessive Hereditary Myotonia. The clinical, electromyographic, histopathological, and molecular findings were evaluated. Therefore, the objective of the present study was to characterize the clinical and molecular findings of Hereditary Myotonia in an inbred pedigree. However, there are no reports of Hereditary Myotonia in pigs to date. Mutations in the CLCN1 gene are the primary cause of non-dystrophic Hereditary Myotonia in several animal species. Examination of various mutant antiporters implies a 'lock-down' mechanism of F(-) inhibition, in which F(-), by virtue of its unique hydrogen-bonding chemistry, greatly retards a proton-linked conformational change essential for the transport cycle of CLC-ec1. By subjecting purified CLC-ec1 to anion transport measurements, electrophysiological recording, equilibrium ligand-binding studies and X-ray crystallography, we show that F(-) binds in the Cl(-) transport pathway with affinity similar to Cl(-) but stalls the transport cycle. The recent discovery of a new CLC clade of F(-)/H(+) antiporters, which are highly selective for F(-) over Cl(-), led us to investigate the mechanism of Cl(-)-over-F(-) selectivity by a CLC Cl(-)/H(+) antiporter, CLC-ec1. These proteins are weakly selective among anions commonly studied, including Cl(-), Br(-), I(-), NO3(-) and SCN(-), but they seem to be very selective against F(-). Fixed an issue where right-clicking on a graph in a report and choosing to show 'Report', 'History' or 'Element Info' triggered an error.Cl(-)/H(+) antiporters of the CLC superfamily transport anions across biological membranes in varied physiological contexts.Fixed an issue where it took a long time to open a workbench it it was previouslyclosed when displaying an open table editor that had been sorted.Fixed an issue with the Import Metadata tool where, if a spreadsheet had already been loaded, then selecting the same spreadsheet again did not reload the spreadsheet content.Fixed a bug in the 'Manage Enzymes' wizard that prevented a user from cancelling the action if 'Save as new enzyme list' was enabled. ![]()
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