Genetic Analysis of the Epidermal Differentiation Complex (EDC) on Human Chromosome 1q21: Chromosomal Orientation, New Markers, and a 6-Mb YAC Contig |
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| Authors: | Ingo Marenholz Armin Volz Andreas Ziegler Angela Davies Ioannis Ragoussis Bernhard P Korge Dietmar Mischke |
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| Institution: | aInstitut für Experimentelle Onkologie und Transplantationsmedizin, Virchow-Klinikum der Humboldt-Universität zu Berlin, Berlin, Germany;bDivision of Medical and Molecular Genetics, United Medical and Dental Schools of Guy's and St Thomas's Hospitals (UMDS), Guy's Hospital, London, United Kingdom;cKlinik und Poliklinik für Dermatologie und Venerologie, Universität zu Köln, Cologne, Germany |
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| Abstract: | 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 epidermis. 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 (STS) markers (D1S305, D1S442, D1S498, D1S1664), and 10 new region-specific probes (D1S3619–D1S3628). Here we present a contig that covers about 6 Mb of 1q21 including the entire EDC. Fluorescencein situhybridization on metaphase chromosomes with two YACs flanking the EDC determined its chromosomal orientation and established, in conjunction with physical mapping results, the following order of genes and STSs: 1cen–D1S442–D1S498–S100A10–THH–FLG–D1S1664–IVL–SPRR3–SPRR1–SPRR2–LOR–S100A9–S100A8–S100A7–S100A6–S100A5–S100A4–S100A3–S100A2–S100A1–D1S305–1qtel. These integrated physical, cytogenetic, and genetic mapping data will be useful for linkage analyses of diseases associated with region 1q21 and for the identification of novel genes and regulatory elements in the EDC. |
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