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Published on: October 28, 2025
Characterization of human Enah gene
Lorena Urbanelli1, Carlo Massini, Carla Emiliani
1Dipartimento di Medicina Sperimentale e Scienze Biochimiche, Sezione di Biochimica e Biologia Molecolare, Università degli Studi di Perugia, via del Giochetto, 06122 Perugia, Italy.
Biochimica Et Biophysica Acta
|February 24, 2006
Summary
Human Enabled homolog (Enah) is crucial for neural development, linking signaling pathways to actin cytoskeleton remodeling. Researchers characterized the human Enah gene, its promoter, and alternative splicing, revealing its differential expression.
Area of Science:
- Molecular Biology
- Cell Biology
- Genetics
Background:
- Enabled homolog (Enah) is a mammalian ortholog of Drosophila Enabled (Ena), involved in neural development.
- Enah, VASP, and EVL are vertebrate Ena-related genes essential for linking signal transduction to actin cytoskeleton remodeling.
Purpose of the Study:
- To isolate and sequence a cDNA encoding human Enah.
- To characterize the human Enah gene, including its promoter and alternative splicing.
- To understand factors affecting human Enah gene expression.
Main Methods:
- cDNA sequencing of human Enah.
- Amino acid sequence comparison between human and mouse Enah.
- Gene structure analysis (exons, size).
- Northern blot analysis for transcript size and expression.
- RT-PCR for alternative splicing.
- Cloning and preliminary characterization of the human Enah gene promoter.
Main Results:
- Human and mouse Enah amino acid sequences show 86.6% identity, with human Enah having additional amino acids in a repeat region.
- The human Enah gene spans approximately 157 kb and contains 14 exons.
- A major transcript of about 4.8 kb was detected in all examined tissues.
- Alternatively spliced isoforms were identified, and the gene is differentially expressed.
Conclusions:
- The human Enah gene has been fully sequenced and characterized.
- Differential expression and alternative splicing suggest complex regulatory mechanisms for Enah.
- Preliminary characterization of the human Enah promoter provides insight into regulatory factors.
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