THE HUMAN DEAD RINGER BRIGHTHOMOLOG, DRIL1 - CDNA CLONING, GENE STRUCTURE, AND MAPPING TO D19S886, A MARKER ON 19P13.3 THAT IS STRICTLY LINKED TO THE PEUTZ-JEGHERS-SYNDROME

The Drosophila gene dead ringer (dri) was isolated as a novel gene enc oding a sequence-specific DNA-binding protein. DRI is a founding membe r of a growing protein family whose members share a conserved DNA bind ing domain termed the APT-rich interaction domain. dri is developmenta lly regulated, being expressed in a restricted set of cells including some neural cells and differentiating cells of the gut and salivary gl and ducts. The mouse homolog of dri, bright, has beers shown to be exp ressed in mature B-cells in the immune system, its product trans-activ ating expression through are IgH enhancer in transient transfection as says. We have cloned a human dri/bright homolog, termed DRIL1. Here we report the exon-intron structure of the gene and show physical linkag e within 80 kb to the D19S886 marker on 19p13.3. As this marker is int imately linked to the Peutz-Jeghers syndrome in several large pedigree s, human dri (DRIL1) is a candidate gene for this disorder. (C) 1998 A cademic Press.