Lorena Urbanelli , Carlo Massini , Carla Emiliani , Antonio Orlacchio , Giorgio Bernardi , Aldo Orlacchio
{"title":"Characterization of human Enah gene","authors":"Lorena Urbanelli , Carlo Massini , Carla Emiliani , Antonio Orlacchio , Giorgio Bernardi , Aldo Orlacchio","doi":"10.1016/j.bbaexp.2006.01.001","DOIUrl":null,"url":null,"abstract":"<div><p>Enabled homolog (Enah) is a mammalian ortholog of <em>Drosophila</em> Enabled (Ena), which is genetically linked to the <em>Drosophila</em> Abl tyrosine phosphorylation signaling cascade and is required for normal neural development. Vertebrates have three Ena-related genes: Enah, VASP (vasodilator-stimulated phosphoprotein) and Ena/VASP like (EVL). These genes play an important role in linking signal transduction pathways to localized remodeling of the actin cytoskeleton. We isolated and sequenced a cDNA encoding human Enah. Comparison of the amino acid sequences of mouse (<em>Mus musculus</em>) and human (<em>Homo sapiens</em>) species shows 86.6% identity. The human protein appears longer than the mouse and additional amino acids are concentrated in a region containing repeats of the amino acid sequence LERER. The complete gene is about 157 kb and consists of 14 exons. Analysis of multiple tissue northern blot revealed a major transcript of about 4.8 kb in all tissue examined. Alternatively spliced isoforms were isolated by RT-PCR. The gene is differentially expressed and to gain insight factors affecting its expression we cloned and preliminarily characterized human Enah gene promoter.</p></div>","PeriodicalId":100161,"journal":{"name":"Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression","volume":"1759 1","pages":"Pages 99-107"},"PeriodicalIF":0.0000,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.bbaexp.2006.01.001","citationCount":"32","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0167478106000030","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 32
Abstract
Enabled homolog (Enah) is a mammalian ortholog of Drosophila Enabled (Ena), which is genetically linked to the Drosophila Abl tyrosine phosphorylation signaling cascade and is required for normal neural development. Vertebrates have three Ena-related genes: Enah, VASP (vasodilator-stimulated phosphoprotein) and Ena/VASP like (EVL). These genes play an important role in linking signal transduction pathways to localized remodeling of the actin cytoskeleton. We isolated and sequenced a cDNA encoding human Enah. Comparison of the amino acid sequences of mouse (Mus musculus) and human (Homo sapiens) species shows 86.6% identity. The human protein appears longer than the mouse and additional amino acids are concentrated in a region containing repeats of the amino acid sequence LERER. The complete gene is about 157 kb and consists of 14 exons. Analysis of multiple tissue northern blot revealed a major transcript of about 4.8 kb in all tissue examined. Alternatively spliced isoforms were isolated by RT-PCR. The gene is differentially expressed and to gain insight factors affecting its expression we cloned and preliminarily characterized human Enah gene promoter.
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