title: A repeated element in the human lamin B2 gene covers most of an intron and reiterates the exon/intron junction.
abstract: Nuclear lamins are intermediate filament-type proteins forming a fibrillar meshwork that underlies the inner nuclear membrane. We have previously reported the identification of the human lamin B2 gene that maps to the subtelomeric band p13.3 of chromosome 19 in close proximity of a human DNA replication origin. Here we report the identification within the human lamin B2 gene of a novel repeated element (variable number of tandem repeats: VNTR) that appears to have a very recent origin, being absent in the genome of mouse and primates such as cercopitheques, lemurs and macaques. The VNTR is adjacent to exon 8 of the lamin B2 gene which, albeit encoding the nuclear localization signal of the protein, is highly divergent both at amino acid and nucleotide level among species. Moreover the VNTR, characterized by a repeated unit of about 100 bp, covers most of intron 8 of the gene and reiterates both the last 7 bp of the upstream exon and the exon/intron junction. RT-PCR experiments carried out on HeLa cell RNA suggest that none of the downstream junctions is used during the processing of the lamin B2 pre-mRNA.
authors.affiliation: Istituto di Genetica Biochimica ed Evoluzionistica-CNR, Pavia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: de Stanchina
authors.forename: G
authors.initials: G
authors.lastname: Perini
authors.forename: G
authors.initials: G
authors.lastname: Patrone
authors.forename: A
authors.initials: A
authors.lastname: Suarez-Covarrubias
authors.forename: S
authors.initials: S
authors.lastname: Riva
authors.forename: G
authors.initials: G
authors.lastname: Biamonti
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D015139:Blotting, Southern; D019143:Evolution, Molecular; D005091:Exons; D006801:Humans; D007438:Introns; D034921:Lamin Type B; D034882:Lamins; D051379:Mice; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D011323:Primates / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA
chemical_list: D034921:Lamin Type B; D034882:Lamins; D009687:Nuclear Proteins