A novel HLA-C allele, HLA-C*07:02:01:17N , with an alternative splice site

HLA ◽  
2018 ◽  
Vol 92 (1) ◽  
pp. 56-57 ◽  
Author(s):  
M. Shimizu ◽  
Y. Kuroda ◽  
F. Nakajima ◽  
T. Nagai ◽  
M. Satake
Keyword(s):  
Alternative Splice ◽  
Splice Site ◽  
Alternative Splice Site

Factors That Influence Alternative Splice Site Selection in Vitro

1987 ◽  
pp. 97-112 ◽  
Author(s):  
JAMES L. MANLEY ◽  
JONATHAN C.S. NOBLE ◽  
XIN-YUAN FU ◽  
HUI GE
Keyword(s):  
Alternative Splice ◽  
Splice Site ◽  
Site Selection ◽  
Splice Site Selection ◽  
Alternative Splice Site

scholarly journals The concentration of B52, an essential splicing factor and regulator of splice site choice in vitro, is critical for Drosophila development.

1994 ◽  
Vol 14 (8) ◽  
pp. 5360-5370 ◽  
Author(s):  
M E Kraus ◽  
J T Lis
Keyword(s):  
Alternative Splice ◽  
Splice Site ◽  
Developmental Stages ◽  
Immunoblot Analysis ◽  
Splicing Factor ◽  
Dependent Manner ◽  
Concentration Dependent Manner ◽  
Alternative Splice Site

B52 is a Drosophila melanogaster protein that plays a role in general and alternative splicing in vitro. It is homologous to the human splicing factor ASF/SF2 which is essential for an early step(s) in spliceosome assembly in vitro and also regulates 5' and 3' alternative splice site choice in a concentration-dependent manner. In vitro, B52 can function as both a general splicing factor and a regulator of 5' alternative splice site choice. Its activity in vivo, however, is largely uncharacterized. In this study, we have further characterized B52 in vivo. Using Western blot (immunoblot) analysis and whole-mount immunofluorescence, we demonstrate that B52 is widely expressed throughout development, although some developmental stages and tissues appear to have higher B52 levels than others do. In particular, B52 accumulates in ovaries, where it is packaged into the developing egg and is localized to nuclei by the late blastoderm stage of embryonic development. We also overexpressed this protein in transgenic flies in a variety of developmental and tissue-specific patterns to examine the effects of altering the concentration of this splicing factor in vivo. We show that, in many cell types, changing the concentration of B52 adversely affects the development of the organism. We discuss the significance of these observations with regard to previous in vitro results.

Molecular and Cellular Characterization of a New α-Thalassemia Mutation (HBA2:c.94A>C) Generating an Alternative Splice Site and a Premature Stop Codon

Hemoglobin ◽  
2012 ◽  
Vol 36 (3) ◽  
pp. 244-252 ◽  
Author(s):  
Talal Qadah ◽  
Jill Finlayson ◽  
Christopher Newbound ◽  
Nicole Pell ◽  
Michelle Pascoe ◽  
...  
Keyword(s):  
Alternative Splice ◽  
Splice Site ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Alternative Splice Site ◽  
Thalassemia Mutation

scholarly journals Prevalent skipping of an individual exon accounts for shortened protein 4.1 Presles

Blood ◽  
1992 ◽  
Vol 80 (11) ◽  
pp. 2925-2930 ◽  
Author(s):  
S Feddal ◽  
S Hayette ◽  
F Baklouti ◽  
R Rimokh ◽  
R Wilmotte ◽  
...  
Keyword(s):  
Red Blood Cells ◽  
Alternative Splice ◽  
Splice Site ◽  
Blood Cells ◽  
Protein 4.1 ◽  
Alternative Splice Site ◽  
Alternatively Spliced ◽  
Domain Protein

Abstract An asymptomatic shortened variant of protein 4.1 (-8.5 Kd) was first recognized in the red blood cells and designated protein 4.1 Presles. We show here that the missing segment belongs to the 22/24 Kd domain. Protein 4.1 cDNA from reticulocytes was amplified, mapped, and sequenced. The truncation appeared to result from the prevalent skipping of an individual and alternatively spliced exon, also called motif II, whereas this motif is preferentially retained under normal conditions. The same phenomenon was observed in lympho-blastoid cells. Sequencing over 80 bp of intronic sequences 5′ and 3′ of motif II failed to reveal any change. A new alternative splice site was incidently found 81 nucleotide downstream of motif II in both normal and truncated 4.1 mRNA.

Identification of HLA-A*0111N: A Synonymous Substitution, Introducing an Alternative Splice Site in Exon 3, Silenced the Expression of an HLA-A Allele

2005 ◽  
Vol 66 (8) ◽  
pp. 912-920 ◽  
Author(s):  
Judith Reinders ◽  
Erik H. Rozemuller ◽  
Henny G. Otten ◽  
Anna J.S. Houben ◽  
Anne Dormoy ◽  
...  
Keyword(s):  
Alternative Splice ◽  
Splice Site ◽  
Synonymous Substitution ◽  
Alternative Splice Site

scholarly journals Splicing Factor SRp30c Interaction with Y-box Protein-1 Confers Nuclear YB-1 Shuttling and Alternative Splice Site Selection

2003 ◽  
Vol 278 (20) ◽  
pp. 18241-18248 ◽  
Author(s):  
Ute Raffetseder ◽  
Björn Frye ◽  
Thomas Rauen ◽  
Karsten Jürchott ◽  
Hans-Dieter Royer ◽  
...  
Keyword(s):  
Alternative Splice ◽  
Splice Site ◽  
Site Selection ◽  
Splicing Factor ◽  
Splice Site Selection ◽  
Alternative Splice Site
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