SEL1L, the human homolog of C. elegans sel-1: Refined physical mapping, gene structure and identification of polymorphic markers

Ida Biunno, Loris Bernard, Paul Dear, Monica Cattaneo, Sara Volorio, Laura Zannini, Alan Bankier, Massimo Zollo

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)227-235
Number of pages9
JournalHuman Genetics
Volume106
Issue number2
DOIs
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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