A transcript map of an 800-kb region on human chromosome 11q13, part of the candidate region for SCA5 and BBS1

The exon-amplification method was used to identify putative transcribed seq uences from an 800-kb region that includes the genes for phospholipase C be ta 3 and PYGM on human chromosome 11q13. The clone contig consisted of ten cosmids, three bacterial artificial chromosomes, and one PI artificial chro mosome. A total of 83 exons were generated of which 23 were derived from kn own genes and expressed sequence tags (ESTs). Five different EST cDNA clone s were identified and mapped on the contig. One is a homolog of the human p 70S6 kinase (p70s6 k) gene whose function involves the translational regula tion of ribosomal protein synthesis and thereby impacts on ribosomal biogen esis. The gene for p70s6 k is expressed universally, including within adipo se cells and retina, and it could play a role in Bardet-Biedl syndrome type I, which has been mapped to 11q13.