Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12

In order to permit detailed characterization of meningioma casesshowing deletions within chromosomal band 22q12 and furthersystematically clone genes located within this region, we establisheda genomic YAC and cosmid contig which encompasses a region inexcess of 1000 kb of 22q12. The YAC contig consists of 6 YACclones arranged Into 5 overlapping steps covering more than1100 kb. Two corresponding cosmid contigs consisting of 40 stepsof overlapping groups of cosmids encompasses 900–1000kb. This set of genomic clones provides a detailed physicalmap of this part of chromosome 22 and constitutes a basis forthe Isolation and characterization of genes that may be locatedwithin this chromosomal region. Employing the exon-amplificationmethod on two cosmids from the contig, we cloned a novel, anonymousgene, pK1.3, which potentially encodes a protein of 683 aminoacids with a predicted molecular weight of of 78.5 kD. Its 2.7kb mRNA is expressed ubiquitously. We estimated the genomicsize of this gene to 100 –150 kb, and it is located inthe Immediate centromeric vicinity of the neurofibromatosis2 (NF2) tumor suppressor gene.