title: Presence of an expressed beta-tubulin gene (TUBB) in the HLA class I region may provide the genetic basis for HLA-linked microtubule dysfunction.
abstract: An expressed beta-tubulin gene (TUBB) has previously been localized to chromosome region 6pter-p21 in man. By using a panel of deletion mutant cell lines and radiation-reduced hybrids containing fragments of chromosome 6, the TUBB locus could be mapped to the HLA class I region at 6p21.3. A long range restriction map including TUBB and several HLA class I genes was then generated by rotating field gel electrophoresis. The results show that TUBB maps to a segment 170-370 kb telomeric of HLA-C. This location suggests that a mutation at the TUBB locus could be the cause for certain forms of HLA-linked microtubule dysfunction, including immotile cilia syndrome.
authors.affiliation: Institut für Experimentelle Onkologie und Transplantationsmedizin, Universitätsklinikum Rudolf Virchow, Freie Universität Berlin, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Volz
authors.forename: E
authors.initials: E
authors.lastname: Weiss
authors.forename: J
authors.initials: J
authors.lastname: Trowsdale
authors.forename: A
authors.initials: A
authors.lastname: Ziegler
mesh_terms: D000818:Animals; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D002925:Ciliary Motility Disorders / Q000235:genetics; D006224:Cricetinae; D015342:DNA Probes; D004587:Electrophoresis, Agar Gel; D006680:HLA Antigens / Q000235:genetics; D015236:HLA-C Antigens / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D008870:Microtubules; D009154:Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D014404:Tubulin / Q000235:genetics*; D014407:Tumor Cells, Cultured
chemical_list: D015342:DNA Probes; D006680:HLA Antigens; D015236:HLA-C Antigens; D014404:Tubulin