Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy.
Best's vitelliform macular dystrophy (Best's disease) is an autosomal dominant disorder of unknown causes and is typically characterised by an accumulation of lipofuscin-like material in the subretinal space of the macula. The disease gene has been localised to chromosome 11q12-13.1 within a 1.4 Mbp interval flanked by markers at D11S1765 and uteroglobin (UGB). Here we report the refined mapping of the gene encoding the p127 kDa subunit (DDB1) of a UV damage-specific DNA binding protein within the D11S1765-UGB region. Northern blot analysis demonstrates an abundant expression of the DDB1 transcript in the retina suggesting a functional role for DDB1 in this tissue. These considerations together with the chromosomal localisation have led us to evaluate the possible involvement of DDB1 in the pathogenesis of Best's disease.
Stöhr
H
H
Institut für Humangenetik, Biozentrum, Universität Würzburg, Germany.
Marquardt
A
A
Rivera
A
A
Kellner
U
U
Weber
B H
BH
D001483:Base Sequence; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D004249:DNA Damage; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D014466:Ultraviolet Rays
C091435:DDB1 protein, human; D017931:DNA Primers; D004268:DNA-Binding Proteins