X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and novel gene containing WD-40 repeats

Abstract

We have identified a novel gene, transducin (β)-like 1 (TBL1), in the Xp22.3 genomic region, that shows high homology with members of the WD-40- repeat protein family. The gene contains 18 exons spanning ~150 kb of the genomic region adjacent to the ocular albinism gene (OA1) on the telomeric side. However, unlike OA1, TBL1 is transcribed from telomere to centromere. Northern analysis indicates that TBL1 is ubiquitously expressed, with two transcripts of ~2.1 kb and 6.0 kb. The open reading frame encodes a 526- amino acid protein, which shows the presence of six β-transducin repeats (WD-40 motif) in the C-terminal domain. The homology with known β-subunits of G proteins and other WD-40-repea..