Structure and Physical Mapping of DR1, a TATA-Binding Protein-Associated Phosphoprotein Gene, to Chromosome 1p22.1 and Its Exclusion in Stargardt Disease (STGD)

• Published in: Genomics (San Diego, Calif.) Calif.), 1996-09, Vol.36 (3), p.554-556
• Main Authors: Rozet, Jean-Michel, Gerber, Sylvie, Perrault, Isabelle, Camuzat, Agnès, Calvas, Patrick, Viegas-Pequignot, Evani, Molina-Gomes, Denise, Le Paslier, Denis, Chumakov, Ilya, Munnich, Arnold, Kaplan, Josseline
• Format: Article
• Language: English
• Subjects: Base Sequence; Biological and medical sciences; Cells, Cultured; Chromosome Mapping; Chromosomes, Human, Pair 1; DNA, Complementary; Humans; In Situ Hybridization, Fluorescence; Macular Degeneration - genetics; Medical sciences; Molecular Sequence Data; Ophthalmology; Phosphoproteins - genetics; Retinopathies; TATA Box; Transcription Factors - genetics
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1996.0508

Several phosphoproteins are known to interact with TATA-binding proteins (TBP). Among them, DR1 is a TBP-associated phosphoprotein that represses both basal and activated levels of transcription. Since an expressed sequence tag of the DR1 gene was mapped to the YAC contig encompassing the Stargardt disease locus (STGD) on chromosome 1p, DR1 was regarded as a candidate gene in this disease. Stargardt disease (MIM No. 248200) is an autosomal recessive macular degeneration characterized by specific perimacular yellowish spots termed "fundus flavimaculatus" associated with pigmentary changes in the central area of the retina. Here, we report the characterization of the intron-exon boundaries of the DR1 gene, its physical mapping to chromosome 1p22.1, and its exclusion in Stargardt disease.