The human dead ringer/bright homolog, 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 encoding a sequence-specific DNA-binding protein. DRI is a founding member of a growing protein family whose members share a conserved DNA binding domain termed the A/T-rich interaction domain. dri is developmentally regulated, being expressed in a restricted set of cells including some neural cells and differentiating cells of the gut and salivary gland ducts. The mouse homolog of dri, bright, has been shown to be expressed in mature B-cells in the immune system, its product trans-activating expression through an IgH enhancer in transient transfection assays. We have cloned a human dri/bright homolog, termed DRIL1. Here we report the exon-intron structure of the gene and show physical linkage within 80 kb to the D19S886 marker on 19p13.3. As this marker is intimately linked to the Peutz-Jeghers syndrome in several large pedigrees, human dri (DRIL1) is a candidate gene for this disorder.
Kortschak
R D
RD
Department of Genetics, University of Adelaide, South Australia, Australia.
Reimann
H
H
Zimmer
M
M
Eyre
H J
HJ
Saint
R
R
Jenne
D E
DE
D000818:Animals; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D004330:Drosophila / Q000235:genetics; D029721:Drosophila Proteins; D005091:Exons / Q000235:genetics; D005809:Genes, Regulator / Q000235:genetics*; D006367:HeLa Cells; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics; D009857:Oncogenes; D009928:Organ Specificity; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D010802:Phylogeny; D012333:RNA, Messenger / Q000032:analysis; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors
C490798:ARID3A protein, human; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; D012333:RNA, Messenger; C098342:Retn protein, Drosophila; D015534:Trans-Activators; D014157:Transcription Factors