title: TAIL1: an isthmin-like gene, containing type 1 thrombospondin-repeat and AMOP domain, mapped to ARVD1 critical region.
abstract: Isthmins represent a novel family of vertebrate secreted proteins containing one copy of the thrombospondin type 1 repeat (TSR), which in mammals is shared by several proteins with diverse biological functions, including cell adhesion, angiogenesis, and patterning of developing nervous system. We have determined the genomic organization of human TAIL1 (thrombospondin and AMOP containing isthmin-like 1), a novel isthmin-like gene encoding a protein that contains a TSR and a C-terminal AMOP domain (adhesion-associated domain in MUC4 and other proteins), characteristic of extracellular proteins involved in adhesion processes. TAIL1 gene encompasses more than 24.4 kb. Analysis of the DNA sequence surrounding the putative transcriptional start region revealed a TATA-less promoter located in a CpG island. Several consensus binding sites for the transcription factors Sp1 and MZF-1 were identified in this promoter region. In humans, TAIL1 gene is located on chromosome 14q24.3 within ARVD1 (arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 1) critical region; preliminary evidence suggests that it is expressed in several tissues, showing multiple alternative splicing.
authors.affiliation: Department of Biology, University of Padua, via U. Bassi 58/B, I-35131 Padua, Italy. vrossi@mail.bio.unipd.it
authors.forename: Valeria
authors.initials: V
authors.lastname: Rossi
authors.forename: Giorgia
authors.initials: G
authors.lastname: Beffagna
authors.forename: Alessandra
authors.initials: A
authors.lastname: Rampazzo
authors.forename: Barbara
authors.initials: B
authors.lastname: Bauce
authors.forename: Gian Antonio
authors.initials: GA
authors.lastname: Danieli
mesh_terms: D017398:Alternative Splicing; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics*; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005091:Exons; D005260:Female; D020869:Gene Expression Profiling; D005796:Genes / Q000235:genetics; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D019699:Thrombospondins / Q000235:genetics*; D014157:Transcription Factors / Q000378:metabolism; D024363:Transcription Initiation Site
chemical_list: D018076:DNA, Complementary; C488585:ISM2 protein, human; D019699:Thrombospondins; D014157:Transcription Factors