منابع مشابه
Splicing of human chloride channel 1
Expression of chloride channel 1 (CLCN1/ClC-1) in skeletal muscle is driven by alternative splicing, a process regulated in part by RNA-binding protein families MBNL and CELF. Aberrant splicing of CLCN1 produces many mRNAs, which were translated into inactive proteins, resulting in myotonia in myotonic dystrophy (DM), a genetic disorder caused by the expansion of a CTG or CCTG repeat. This incr...
متن کاملRegulation of TMEM16A chloride channel properties by alternative splicing.
Expression of TMEM16A protein is associated with the activity of Ca(2+)-activated Cl(-) channels. TMEM16A primary transcript undergoes alternative splicing. thus resulting in the generation of multiple isoforms. We have determined the pattern of splicing and assessed the functional properties of the corresponding TMEM16A variants. We found three alternative exons, 6b, 13, and 15, coding for seg...
متن کاملChannel properties of the splicing isoforms of the olfactory calcium-activated chloride channel Anoctamin 2
Anoctamin (ANO)2 (or TMEM16B) forms a cell membrane Ca(2+)-activated Cl(-) channel that is present in cilia of olfactory receptor neurons, vomeronasal microvilli, and photoreceptor synaptic terminals. Alternative splicing of Ano2 transcripts generates multiple variants with the olfactory variants skipping exon 14 and having alternative splicing of exon 4. In the present study, 5' rapid amplific...
متن کاملChannel properties of the splicing isoforms of the olfactory calcium - activated chloride channel
The amino acid sequence shown in Fig. 1 D incorrectly included four amino acids encoded by exon 14 of ANO2 that is not found in olfactory cDNA and was not present in the clones used in the paper. GenBank accession numbers KC164759, KC164761, KC164760, and KC164762 have been updated accordingly. This error has no effect on any result or conclusion in the paper. Correction Figure 1. Characterizat...
متن کاملLoss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing.
Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder caused by a CTG expansion in the 3' untranslated region of the DMPK gene. A predominant characteristic of DM1 is myotonia resulting from skeletal muscle membrane hyperexcitability. Here we demonstrate loss of the muscle-specific chloride channel (ClC-1) mRNA and protein in DM1 skeletal muscle tissue due to aberrant splicing of...
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ژورنال
عنوان ژورنال: Biochemistry and Biophysics Reports
سال: 2016
ISSN: 2405-5808
DOI: 10.1016/j.bbrep.2015.11.006