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The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing
Y Yamamoto1, J M Huibregtse, P M Howley
1Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA.
Genomics
|April 15, 1997
Summary
The E6-AP gene (UBE3A) encodes a protein ligase implicated in Angelman syndrome. This study reveals its genomic structure and identifies five mRNA transcripts potentially generating three distinct E6-AP protein isoforms.
Area of Science:
- Molecular Biology
- Genetics
- Biochemistry
Background:
- The E6-AP gene (UBE3A) encodes an E3 ubiquitin-protein ligase.
- This ligase interacts with the human papillomavirus E6 oncoprotein, catalyzing p53 ubiquitination.
- Mutations in E6-AP are the identified genetic cause of Angelman syndrome.
Purpose of the Study:
- To present the genomic structure of the E6-AP coding region.
- To analyze E6-AP messenger RNA (mRNA) transcripts.
- To identify potential protein isoforms encoded by E6-AP mRNA.
Main Methods:
- Genomic structure analysis of the E6-AP coding region.
- Messenger RNA (mRNA) transcript analysis.
- Identification of protein isoforms through transcript analysis.
Main Results:
- The genomic structure of the E6-AP coding region was elucidated.
- Five distinct E6-AP mRNA transcripts were identified.
- These transcripts have the potential to encode three different E6-AP protein isoforms (I, II, and III), differing in their amino-termini.
- The identified transcripts were expressed across various examined cell lines.
Conclusions:
- The E6-AP gene (UBE3A) exhibits complex transcript diversity.
- Multiple E6-AP protein isoforms can be generated from alternative mRNA splicing.
- Understanding these isoforms is crucial for comprehending E6-AP function and its role in Angelman syndrome.