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

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 spe cification processes in both vertebrates and invertebrates. The SEL1L gene maps to 14q24.3-31 and here we report its fine localization by HAPPY mappin g, which determines its molecular distance to microsatellite markers isolat ed in the region. We have found two new polymorphic (CA)n microsatellites l ocated in the gene, and have identified the exon-intron boundaries. The gen e is composed of 21 exons spanning 70 kb of genomic DNA. Human SEL1L protei n exhibits a high degree of similarity compared to the mouse and nematode h omologs.