scholarly journals Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B

Hepatology ◽  
2010 ◽  
Vol 52 (5) ◽  
pp. 1662-1670 ◽  
Author(s):  
Lei Wan ◽  
Chang-Hai Tsai ◽  
Chin-Moo Hsu ◽  
Chin-Chang Huang ◽  
Chih-Chao Yang ◽  
...  
Keyword(s):  
Alternative Splice ◽  
Mutation Analysis ◽  
Wilson Disease ◽  
Disease Gene ◽  
Splice Variants ◽  
Alternative Splice Variants

Characterization of three alternative splice variants associated with the Arabidopsis rhomboid protein gene At1g74130

Botany ◽  
2013 ◽  
Vol 91 (12) ◽  
pp. 840-849 ◽  
Author(s):  
Joshua Powles ◽  
Katharine Sedivy-Haley ◽  
Eric Chapman ◽  
Kenton Ko
Keyword(s):  
Alternative Splicing ◽  
Alternative Splice ◽  
Splice Variant ◽  
Serine Proteases ◽  
Transmembrane Domain ◽  
Splice Variants ◽  
Genes Encoding ◽  
Different Characteristics ◽  
Alternative Splice Variants

Rhomboid serine proteases are grouped into three main types — secretases, presenilin-like associated rhomboid-like (PARL) proteases, and “inactive” rhomboid proteins. Although the three rhomboid groups are distinct, the different types are likely to operate within the same cell or compartment, such as observed in the plastids of Arabidopsis. There are four distinct plastid rhomboid genes at play in Arabidopsis plastids, two for active types (At1g25290 and At5g25752) and two for inactive forms (At1g74130 and At1g74140). The number of working plastid rhomboids is further increased by alternative splicing, as reported for At1g25290. To understand how the plastid rhomboid system works, it is necessary to identify all rhomboid forms in play. To this end, this study was designed to examine the alternative splicing activities of At1g74130, one of the two genes encoding proteolytically “inactive” plastid rhomboids. The exon mapping and DNA sequencing results obtained here indicate the presence of three prominent alternative splice variants in the At1g74130 transcript population. The dominant splice variant, L, encodes the full-length protein. The other two splice variants, M and S, produce proteins lacking sections from the carboxyl transmembrane domain region. The splice variants M and S appear to be at levels with functional potential and appear to adjust relative to each other during development and in response to changes in the level of Tic40, a component of the plastid translocon. The splice variant proteins themselves exhibit different characteristics with respect to rhomboid protein–substrate interactions. These differences were observed in bacterial co-expression pull-down assays and in yeast mitochondrial studies. When considered together, the data suggest that the alternative splicing of At1g74130 bears functional significance in Arabidopsis and is likely to be part of a mechanism for diversifying plastid rhomboid function.

Identification and characterization of yak (Bos grunniens) b-Boule gene and its alternative splice variants

Gene ◽  
2014 ◽  
Vol 550 (2) ◽  
pp. 193-199 ◽  
Author(s):  
Bojiang Li ◽  
Sherry Ngo ◽  
Wangjun Wu ◽  
Hongtao Xu ◽  
Zhuang Xie ◽  
...  
Keyword(s):  
Alternative Splice ◽  
Splice Variants ◽  
Bos Grunniens ◽  
Alternative Splice Variants ◽  
Identification And Characterization

Identification and characterization of novel alternative splice variants of human SAMD11

Gene ◽  
2013 ◽  
Vol 530 (2) ◽  
pp. 215-221 ◽  
Author(s):  
Guorong Jin ◽  
Chongde Long ◽  
Weiwei Liu ◽  
Yan Tang ◽  
Yujuan Zhu ◽  
...  
Keyword(s):  
Alternative Splice ◽  
Splice Variants ◽  
Alternative Splice Variants ◽  
Identification And Characterization

Identification of Novel Alternative Splice Variants of Human Constitutive Androstane Receptor and Characterization of Their Expression in the Liver

2004 ◽  
Vol 65 (3) ◽  
pp. 496-502 ◽  
Author(s):  
Hideto Jinno ◽  
Toshiko Tanaka-Kagawa ◽  
Nobumitsu Hanioka ◽  
Seiich Ishida ◽  
Mayumi Saeki ◽  
...  
Keyword(s):  
Alternative Splice ◽  
Splice Variants ◽  
Constitutive Androstane Receptor ◽  
Alternative Splice Variants

scholarly journals Identification and Characterization of Two Alternative Splice Variants of Human Interleukin-2

1996 ◽  
Vol 271 (38) ◽  
pp. 23055-23060 ◽  
Author(s):  
Vjacheslav N. Tsytsikov ◽  
Vladimir V. Yurovsky ◽  
Sergei P. Atamas ◽  
William J. Alms ◽  
Barbara White
Keyword(s):  
Alternative Splice ◽  
Splice Variants ◽  
Interleukin 2 ◽  
Alternative Splice Variants ◽  
Identification And Characterization

Cloning and characterization of Kir3.1 (GIRK1) C-terminal alternative splice variants

1997 ◽  
Vol 46 (1-2) ◽  
pp. 185-196 ◽  
Author(s):  
Cole S Nelson ◽  
Jennifer L Marino ◽  
Charles N Allen
Keyword(s):  
Alternative Splice ◽  
Splice Variants ◽  
Alternative Splice Variants
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