FRAMEWORK YAC CONTIG ANCHORED INTO A 3.2-MB HIGH-RESOLUTION PHYSICAL MAP IN PROXIMAL 11Q13

Despite the presence on band q13 of chromosome 11 of a number of genes predisposing individuals to various human diseases, most of this geno mic region remains loosely mapped. Moreover, there is a relative deart h of yeast artificial chromosome (YAC) contigs from genome-wide studie s: YACs are irregularly distributed over this chromosomal region and h ave not been arranged into contigs. We have thus undertaken fine-scale mapping of a 3.2-Mb region flanked by ACTN3 and FGF3. Since this regi on has demonstrated a high degree of YAC instability, we have establis hed a framework contig by anchoring YACs and cosmids into a high-resol ution physical map based on fluorescence in situ hybridization and lon g-range restriction mapping. The 3.2-Mb area studied includes the boun daries of regions thought to contain genes predisposing individuals to osteoporosis-pseudoglioma syndrome and insulin-dependent diabetes mel litus, as well as genes driving amplification events in human carcinom as. Another feature of this genomic area is that it cross-hybridizes t o nonsyntenic regions of the genome. In addition, it spans the region where syntenic conservation with mouse chromosome 19 ends, making clon es that we have anchored there valuable tools in understanding genome evolution. (C) 1997 Academic Press.