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Expression analysis of the human adducin gene family and evidence of ADD2 4 multiple splicing variants
- Source :
- Biochemical and Biophysical Research Communications. 309:359-367
- Publication Year :
- 2003
- Publisher :
- Elsevier BV, 2003.
-
Abstract
- Adducin is a cytoskeleton heterodimeric protein. Its subunits are encoded by three related genes (ADD1, ADD2, and ADD3) which show alternative spliced variants. Adducin polymorphisms are involved in blood pressure regulation in humans and rats. We have analyzed mRNA distribution of ADD gene family in human tissues and cells with Real-Time TaqMan RT-PCR. Whereas ADD1 is ubiquitously distributed, ADD3 is more expressed in kidney medulla and cortex than in fetal kidney, while in adult liver it is less abundant than in fetal liver. ADD2 beta1 and beta4 variants show the same pattern of distribution with the highest expression in brain, fetal liver, and kidney. Conventional RT-PCR identified new beta4 variants. Beta4a is characterized by an in-frame insertion of 21 nucleotides upstream exon 15 predicting a 7 amino acids longer protein with a similar C-terminus region. It is coexpressed with beta1 and beta4 in several tissues. Fetal kidney shows further beta4b, beta4c and beta4d variants containing internal exon deletions that enormously modify the predicted NH(2) and central regions. Our findings could help one to understand the functional role of adducin variants in specific tissues and cells.
- Subjects :
- Molecular Sequence Data
Biophysics
Biology
Biochemistry
Fetal Kidney
Exon
Humans
Protein Splicing
Gene family
Tissue Distribution
Amino Acid Sequence
RNA, Messenger
Molecular Biology
Gene
Genetics
Base Sequence
Reverse Transcriptase Polymerase Chain Reaction
Gene Expression Profiling
Genetic Variation
Cell Biology
Protein Subunits
ADD1
Gene Expression Regulation
Organ Specificity
ADD3
ADD2
RNA splicing
Calmodulin-Binding Proteins
Sequence Alignment
Subjects
Details
- ISSN :
- 0006291X
- Volume :
- 309
- Database :
- OpenAIRE
- Journal :
- Biochemical and Biophysical Research Communications
- Accession number :
- edsair.doi.dedup.....604ea50a48823239788633a9e264b40b