Expression pattern and alternative splicing of HTT gene in human tissues

2018 ◽  
Vol XII (4) ◽  
pp. 26-32
Author(s):  
A.A. Malakhova ◽  
E.A. Elisaphenko
Keyword(s):  
Alternative Splicing ◽  
Expression Pattern ◽  
Human Tissues

scholarly journals Genetic regulation of MUC1 alternative splicing in human tissues

2008 ◽  
Vol 99 (6) ◽  
pp. 978-985 ◽  
Author(s):  
W Ng ◽  
A X W Loh ◽  
A S Teixeira ◽  
S P Pereira ◽  
D M Swallow
Keyword(s):  
Alternative Splicing ◽  
Genetic Regulation ◽  
Human Tissues

scholarly journals Truncated IRAG variants modulate cGMP-mediated inhibition of human colonic smooth muscle cell contraction

2011 ◽  
Vol 301 (6) ◽  
pp. C1445-C1457 ◽  
Author(s):  
Alexander von Werder ◽  
Martina Mayr ◽  
Günter Schneider ◽  
Daniela Oesterle ◽  
Ralph M. Fritsch ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Smooth Muscle ◽  
Alternative Splicing ◽  
Smooth Muscle Cells ◽  
Single Gene ◽  
Muscle Cells ◽  
Acceptor Site ◽  
Human Tissues ◽  
Mrna Isoforms ◽  
Donor And Acceptor

Nitric oxide (NO) induces relaxation of colonic smooth muscle cells predominantly by cGMP/cGMP-dependent protein kinase I (cGKI)-induced phosphorylation of the inositol 1,4,5-trisphosphate receptor (IP3R)-associated cGMP kinase substrate (IRAG), to block store-dependent calcium signaling. In the present study we analyzed the structure and function of the human IRAG/MRVI1 gene. We describe four unique first exon variants transcribed from individual promoters in diverse human tissues. Tissue-specific alternative splicing with exon skipping and alternative splice donor and acceptor site usage further increases diversity of IRAG mRNA variants that encode for NH2- and COOH-terminally truncated proteins. At the functional level, COOH-terminally truncated IRAG variants lacking both the cGKI phosphorylation and the IP3RI interaction site counteract cGMP-mediated inhibition of calcium transients and relaxation of human colonic smooth muscle cells. Since COOH-terminally truncated IRAG mRNA isoforms are widely expressed in human tissues, our results point to an important role of IRAG variants as negative modulators of nitric oxide/cGKI-dependent signaling. The complexity of alternative splicing of the IRAG gene impressively demonstrates how posttranscriptional processing generates functionally distinct proteins from a single gene.

Identification and expression pattern of two novel alternative splicing variants of EEF1D gene of dairy cattle

Gene ◽  
2014 ◽  
Vol 534 (2) ◽  
pp. 189-196 ◽  
Author(s):  
Yan Xie ◽  
Shaohua Yang ◽  
Xiaogang Cui ◽  
Li Jiang ◽  
Shengli Zhang ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Dairy Cattle ◽  
Expression Pattern ◽  
Splicing Variants

Expression of UGT2B7 is driven by two mutually exclusive promoters and alternative splicing in human tissues

2013 ◽  
Vol 23 (12) ◽  
pp. 684-696 ◽  
Author(s):  
Vincent Ménard ◽  
Eric Lévesque ◽  
Sylvia Chen ◽  
Olivier Eap ◽  
Melanie S. Joy ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Human Tissues
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