title: Organization of the human protein 4.1 genomic locus: new insights into the tissue-specific alternative splicing of the pre-mRNA.
abstract: Protein 4.1 is a globular 80-kDa component of the erythrocyte membrane skeleton that enhances spectrin-actin interaction via its internal 10-kDa domain. Previous studies have shown that protein 4.1 mRNA is expressed as multiple alternatively spliced isoforms, resulting from the inclusion or exclusion of small cassette sequences called motifs. By tissue screening for protein 4.1 isoforms, we have observed new features of an already complex pattern of alternative splicing within the spectrin/actin binding domain. In particular, we found a new 51-nt exon that is present almost exclusively in muscle tissue. In addition, we have isolated multiple genomic clones spanning over 200 kb, containing the entire erythroid and nonerythroid coding sequence of the human locus. The exon/intron structure has now been characterized; with the exception of a 17-nt motif, all of the alternatively spliced motifs correspond to individual exons. The 3'-untranslated region (UTR) has also been completely sequenced using various PCR and genomic-sequencing methods. The 3' UTR, over 3 kb, accounts for one-half of the mature mRNA.
authors.affiliation: Department of Internal Medicine, School of Medicine, Yale University, New Haven, Connecticut 06510, USA. baklouti@cismsun.univ-lyon1.fr
authors.forename: F
authors.initials: F
authors.lastname: Baklouti
authors.forename: S C
authors.initials: SC
authors.lastname: Huang
authors.forename: T J
authors.initials: TJ
authors.lastname: Vulliamy
authors.forename: J
authors.initials: J
authors.lastname: Delaunay
authors.forename: E J
authors.initials: EJ
authors.lastname: Benz
mesh_terms: D000199:Actins / Q000378:metabolism; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001665:Binding Sites; D002874:Chromosome Mapping; D003598:Cytoskeletal Proteins; D018076:DNA, Complementary; D005091:Exons; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D008969:Molecular Sequence Data; D009479:Neuropeptides; D014176:Protein Biosynthesis; D012322:RNA Precursors / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics*; D051381:Rats; D013049:Spectrin / Q000378:metabolism
chemical_list: D000199:Actins; D003598:Cytoskeletal Proteins; D018076:DNA, Complementary; D008565:Membrane Proteins; D009479:Neuropeptides; D012322:RNA Precursors; D012333:RNA, Messenger; C028841:erythrocyte membrane band 4.1 protein; C120557:erythrocyte membrane protein band 4.1-like 1; D013049:Spectrin