Integrated genetic and physical map of the 1q3 -> q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes

The gene for autosomal recessive retinitis pigmentosa (RP12) with preserved para-arteriolar retinal pigment epithelium was previously mapped close to the F13B gene in region 1q31 --> q32.1. A 4-Mb yeast artificial chromosome contig spanning this interval was constructed to facilitate cloning of the RP12 gene. The contig comprises 25 sequence-tagged sites, polymorphic marke rs, and single-copy probes, including five newly obtained probes. The conti g orders the F13B and HF1 genes, as well as five expressed sequence tags, w ith respect to the integrated genetic map of this region. Homozygosity mapp ing resulted in refinement of the candidate gene locus for RP12 to a 1.3-cM region. Currently, approximately 1 Mb of the contig is represented in P1-d erived artificial chromosome (PAC) clones. Direct screening of a cDNA libra ry derived from neural retina with PACs resulted in identification of the h uman elongation factor 1 alpha pseudogene (EEF1AL11) and a human ribosomal protein L30 pseudogene (RPL30). A physical and genetic map covering the ent ire RP12 candidate gene region was constructed.