title: SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers.
abstract: We have cloned the human full-length cDNA SEL1L, which is highly similar to the C. elegans sel-1 gene, an important negative regulator of the "notch" pathway which acts as a key regulator of the cellular proliferation and specification processes in both vertebrates and invertebrates. The SEL1L gene maps to 14q24.3-31 and here we report its fine localization by HAPPY mapping, which determines its molecular distance to microsatellite markers isolated in the region. We have found two new polymorphic (CA)n microsatellites located in the gene, and have identified the exon-intron boundaries. The gene is composed of 21 exons spanning 70 kb of genomic DNA. Human SEL1L protein exhibits a high degree of similarity compared to the mouse and nematode homologs.
authors.affiliation: Istituto Tecnologie Biomediche Avanzate del CNR, Milano, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Biunno
authors.forename: L
authors.initials: L
authors.lastname: Bernard
authors.forename: P
authors.initials: P
authors.lastname: Dear
authors.forename: M
authors.initials: M
authors.lastname: Cattaneo
authors.forename: S
authors.initials: S
authors.lastname: Volorio
authors.forename: L
authors.initials: L
authors.lastname: Zannini
authors.forename: A
authors.initials: A
authors.lastname: Bankier
authors.forename: M
authors.initials: M
authors.lastname: Zollo
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D017173:Caenorhabditis elegans / Q000235:genetics*; D018076:DNA, Complementary; D005091:Exons; D005819:Genetic Markers; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007438:Introns; D051379:Mice; D008969:Molecular Sequence Data; D020161:Physical Chromosome Mapping; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: D018076:DNA, Complementary; D005819:Genetic Markers; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C117384:SEL1L protein, human; C492169:Sel1h protein, mouse