Physical and transcript map of a 2-Mb region in Xp22.1 containing candidate genes for X-linked mental retardation and short stature

Genetic loci for several diseases, including X-linked nonspecific mental retardation and short stature, have been mapped to Xp22.1. In spite of the recent publications of two draft sequences for the human genome, this region seems to be largely unmapped and unsequenced. Here we report an integrated physical and transcript map of ∼ 2-Mb from DXS8004 to DXS365. Using sequence tagged site (STS)-content mapping and chromosome walking, we assembled a genomic clone contig of 54 BACs and one cosmid with an estimated 4.5-fold coverage of this region. The minimum tiling path consists of 23 BACs and one cosmid. Onto this contig, we mapped 30 new STSs derived from the unique end-sequences of the BACs, three expressed sequence tags, five genes, and seven CpG islands. This integrated map provides a unique resource for the positional cloning of candidate disease genes mapping to Xp22.1 and is therefore of value for the completion of the genomic sequence of this region.