title: Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21.
abstract: Genes of three protein families, which are in part specifically expressed in the course of terminal differentiation of human epidermis, have previously been mapped to chromosome 1q21. Here we show that these genes are physically linked within 2.05 Mb of DNA. The order is calpactin I light chain, trichohyalin, profilaggrin, involucrin/small proline-rich protein, loricrin, and calcyclin. The colocalization in the 1q21 region together with their functional interdependence during epidermal differentiation raises the question whether these genes share regulatory elements which control their transcriptional activities. As several of them are potential candidate genes for dyskeratotic skin diseases, this physical map should be of great value for genetic linkage analyses.
authors.affiliation: Institut für Experimentelle Onkologie und Transplantationsmedizin, Universitätsklinikum Rudolf Virchow.
authors.forename: A
authors.initials: A
authors.lastname: Volz
authors.forename: B P
authors.initials: BP
authors.lastname: Korge
authors.forename: J G
authors.initials: JG
authors.lastname: Compton
authors.forename: A
authors.initials: A
authors.lastname: Ziegler
authors.forename: P M
authors.initials: PM
authors.lastname: Steinert
authors.forename: D
authors.initials: D
authors.lastname: Mischke
mesh_terms: D017302:Annexins / Q000235:genetics; D001483:Base Sequence; D002135:Calcium-Binding Proteins / Q000235:genetics; D018797:Cell Cycle Proteins; D002454:Cell Differentiation / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D017931:DNA Primers; D000078404:Epidermal Cells; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D005810:Multigene Family; D010455:Peptides / Q000235:genetics; D055232:Proline-Rich Protein Domains; D015183:Restriction Mapping; D000075383:S100 Calcium Binding Protein A6; D009418:S100 Proteins
chemical_list: D017302:Annexins; D002135:Calcium-Binding Proteins; D018797:Cell Cycle Proteins; D017931:DNA Primers; D008565:Membrane Proteins; D010455:Peptides; D000075383:S100 Calcium Binding Protein A6; D009418:S100 Proteins; C064554:loricrin; C055351:S100A6 protein, human