A point mutation in splice donor site of intron 12 of LDLR receptor gene causing exon skipping, alternative splicing and read through: a high-frequency mutation in Japan

1994 ◽  
Vol 109 (1-2) ◽  
pp. 110-111
Author(s):  
T. Maruvama ◽  
Y. Miyake ◽  
Y. Toyota ◽  
M. Harada-Shiba ◽  
T. Yamamura ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Point Mutation ◽  
High Frequency ◽  
Receptor Gene ◽  
Donor Site ◽  
Exon Skipping ◽  
Splice Donor Site ◽  
Splice Donor

An α‐Thalassemia Phenotype in a Dutch Hindustani, Caused by a New Point Mutation that Creates an Alternative Splice Donor Site in the First Exon of the α2‐Globin Gene

Hemoglobin ◽  
2004 ◽  
Vol 28 (3) ◽  
pp. 255-259 ◽  
Author(s):  
Cornelis L. Harteveld ◽  
Pierre W. Wijermans ◽  
Peter van Delft ◽  
Ellen Rasp ◽  
Hans L. Haak ◽  
...  
Keyword(s):  
Point Mutation ◽  
Alternative Splice ◽  
Globin Gene ◽  
Donor Site ◽  
Splice Donor Site ◽  
Splice Donor

Exon truncation by alternative splicing of murine ICAM-1

2002 ◽  
Vol 12 (1) ◽  
pp. 47-51 ◽  
Author(s):  
Joseph P. Mizgerd ◽  
Matt R. Spieker ◽  
Michal M. Lupa
Keyword(s):  
Alternative Splicing ◽  
Splice Variant ◽  
Donor Site ◽  
Exon Skipping ◽  
Intercellular Adhesion Molecule ◽  
Splice Donor Site ◽  
Intercellular Adhesion Molecule 1 ◽  
Membrane Expression ◽  
Alternatively Spliced ◽  
Ig Domain

The murine gene for intercellular adhesion molecule-1 (ICAM-1) encodes multiple products, arising from alternative splicing. Full-length ICAM-1 contains five extracellular Ig domains, each encoded by a separate exon. Alternatively spliced forms have Ig domains 2, 3, and/or 4 excised as a result of exon skipping. We report here a novel splice variant of murine ICAM-1, resulting from exon truncation rather than exon skipping and affecting Ig domain 5. A 5′ splice donor site within exon 6 generates transcripts missing 69 nucleic acids from the 3′ terminus of the exon. This in-frame exon truncation is predicted to replace 24 amino acids within Ig domain 5 with a single aspartic acid residue, yielding a structure other than an Ig domain immediately external to the membrane. Expression of this alternatively spliced form is induced in mouse lungs, spleen, and kidneys during LPS-induced pulmonary inflammation. Since the affected region is critical for ICAM-1 presentation, dimerization, and solubilization, this alternative splice variant may have unique physiological functions.

scholarly journals The human gastrin/cholecystokinin type B receptor gene: alternative splice donor site in exon 4 generates two variant mRNAs.

1993 ◽  
Vol 90 (19) ◽  
pp. 9085-9089 ◽  
Author(s):  
I. Song ◽  
D. R. Brown ◽  
R. N. Wiltshire ◽  
I. Gantz ◽  
J. M. Trent ◽  
...  
Keyword(s):  
Alternative Splice ◽  
Receptor Gene ◽  
Donor Site ◽  
Splice Donor Site ◽  
Type B ◽  
Splice Donor ◽  
Exon 4 ◽  
Human Gastrin

scholarly journals Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity

1997 ◽  
Vol 30 (3) ◽  
pp. 290
Author(s):  
A.B.P. Van Kuilenburg ◽  
P. Vreken ◽  
L.V.A.M. Beex ◽  
R. Meinsma ◽  
H. van Lenthe ◽  
...  
Keyword(s):  
Point Mutation ◽  
Dihydropyrimidine Dehydrogenase ◽  
Donor Site ◽  
Splice Donor Site ◽  
Splice Donor
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