GENETIC-ANALYSIS OF THE EPIDERMAL DIFFERENTIATION COMPLEX (EDC) ON HUMAN-CHROMOSOME 1Q21 - CHROMOSOMAL ORIENTATION, NEW MARKERS, AND A 6-MBYAC CONTIG

The epidermal differentiation complex (EDC) unites a remarkable number of structurally, functionally, and evolutionarily related genes that play an important role in terminal differentiation of the human epider mis. It is localized within 2.05 Mb of region q21 on human chromosome 1. We have identified and characterized 24 yeast artificial chromosome (YAC) clones by mapping individual EDC genes, sequence-tagged site (S TS) markers (D1S305, D1S442, D1S498, D1S1664), and 10 new region-speci fic probes (D1S3619-D1S3628). Here we present a contig that covers abo ut 6 Mb of 1q21 including the entire EDC. Fluorescence in situ hybridi zation on metaphase chromosomes with two YACs flanking the EDC determi ned its chromosomal orientation and established, in conjunction with p hysical mapping results, the following order of genes and STSs: 1cen-D 1S442-D1S498-S100A10-THH-FLGD1S1664-IVL- A6-S100A5-S100A-S100A3-S100A2 -S100A1-D1S305-1qtel. These integrated physical, cytogenetic, and gene tic mapping data will be useful for linkage analyses of diseases assoc iated with region 1q21 and for the identification of novel genes and r egulatory elements in the EDC. (C) 1996 Academic Press, Inc.