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DNA and Cell Biology
Article . 2012 . Peer-reviewed
License: Mary Ann Liebert TDM
Data sources: Crossref
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Characterization of the Human Ornithine Transcarbamylase 3′ Untranslated Regulatory Region

Authors: Monica, Lopes-Marques; Isabel, Pereira-Castro; António, Amorim; Luisa, Azevedo;

Characterization of the Human Ornithine Transcarbamylase 3′ Untranslated Regulatory Region

Abstract

Mutations in the untranslated regulatory regions of genes may result in abnormal gene expression or transcriptional regulation. In this study, we characterize the ornithine transcarbamylase (OTC) mRNA isoforms of the X-linked OTC gene involved in the urea formation in the liver. Our data revealed that two major transcripts (OTC-t1 and OTC-t2) are more highly expressed than any of the other isoforms in all the tissues analyzed, though a longer transcript (OTC-t3) was also isolated and characterized from the brain sample. The OTC-t2 sequence fully matches the OTC mRNA reference sequence (NM_000531.5). All three isoforms use a canonical AAUAAA hexamer that is predicted to fold into a hairpin secondary structure which might be exposed to the cleavage and polyadenylation specificity factor. In addition, we observed that the OTC-t1 and OTC-t2 transcripts display heterogeneity at the cleavage sites in a tissue-dependent manner. Taken together, our data demonstrate that several mRNA isoforms are transcribed from the OTC gene, thereby indicating a wide degree of variability in post-transcriptional regulation.

Keywords

Expressed Sequence Tags, DNA, Complementary, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Molecular Sequence Data, Brain, Computational Biology, Sequence Analysis, DNA, Gene Expression Regulation, Enzymologic, Isoenzymes, Liver, Mutation, Humans, RNA, Messenger, 3' Untranslated Regions, Base Pairing, Ornithine Carbamoyltransferase, DNA Primers

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
7
Average
Average
Average
bronze