caa a22 4500 39757519X CHVBK 20180308164853.0 cr unu---uuuuu 161202e199605 xx s 000 0 eng 10.1093/hmg/5.5.659 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.5.659 Long-Range Sequence Analysis in Xq28: Thirteen Known and Six Candidate Genes in 219.4 kb of High GC DNA Between the RCP/GCP and G6PD Loci [Elektronische Daten] [Ellson Y. Chen, Massimo Zollo, Richard Mazzarella, Alfredo Ciccodicola, Chun-nan Chen, Lin Zuo, Cheryl Heiner, Monica Repetto, Frank Burough, David Schlessinger, Michele D'Urso] DNA comprising 219 447 bp was sequenced in nine cosmids and verified at >99.9% precision. Of the standard repetitive elements, 187 Alus make up 20.6% of the sequence, but there were only 27 MERs (2.9%) and 17 L1 fragments (1.6%). This may be characteristic of such high GC (57%) regions. The sequence also includes an 11.3 kb tract duplicated with 99.2% identity at a distance of 38 kb. The region is 80-90% transcribed and 12.5% translated. Thirteen known genes and their exon-intron borders are all accurately predicted at least in part by GRAIL programs, as are six additional genes. From centromere to telomere, the orientation of transcription varies among the first eight genes, then runs centromeric to telomeric for the next five, and is in the opposite sense for the last six. Eighteen of the 19 genes are associated with CpG islands. Two islands are exact copies in the 11.3 kb repeat units, and could thus give rise to double dosage levels of an X-linked gene. Another island is associated with two genes transcribed in opposite directions. From the sequence data, three genes and their exon structure are inferred. One of them, previously associated with HEX2, is shown to be a different gene unrelated to hexokinases; a second gene, previously known by an EST, is plexin, from its 65.5% identity with the Xenopus analog; and a third is a subunit of a vacuolar H-ATPase, and is named VATPS1. © 1996 Oxford University Press Chen Ellson Y. Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin Elmer Corp., 850 Lincoln Center Drive, Foster City, CA 94404, USA aut Zollo Massimo Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin Elmer Corp., 850 Lincoln Center Drive, Foster City, CA 94404, USA aut Mazzarella Richard Department of Molecular Microbiology and Center for Genetics in Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA aut Ciccodicola Alfredo International Institute of Genetics and Biophysics, Via Marconi 10, 80125 Naples, Italy aut Chen Chun-nan Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin Elmer Corp., 850 Lincoln Center Drive, Foster City, CA 94404, USA aut Zuo Lin Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin Elmer Corp., 850 Lincoln Center Drive, Foster City, CA 94404, USA aut Heiner Cheryl Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin Elmer Corp., 850 Lincoln Center Drive, Foster City, CA 94404, USA aut Repetto Monica Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin Elmer Corp., 850 Lincoln Center Drive, Foster City, CA 94404, USA aut Burough Frank Department of Molecular Microbiology and Center for Genetics in Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA aut Schlessinger David Department of Molecular Microbiology and Center for Genetics in Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA aut D'Urso Michele International Institute of Genetics and Biophysics, Via Marconi 10, 80125 Naples, Italy aut Human Molecular Genetics Oxford University Press 5/5(1996-05), 659-668 0964-6906 5:5<659 1996 5 hmg https://doi.org/10.1093/hmg/5.5.659 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.5.659 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Chen Ellson Y. Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin Elmer Corp., 850 Lincoln Center Drive, Foster City, CA 94404, USA aut NATIONALLICENCE 700 1- Zollo Massimo Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin Elmer Corp., 850 Lincoln Center Drive, Foster City, CA 94404, USA aut NATIONALLICENCE 700 1- Mazzarella Richard Department of Molecular Microbiology and Center for Genetics in Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA aut NATIONALLICENCE 700 1- Ciccodicola Alfredo International Institute of Genetics and Biophysics, Via Marconi 10, 80125 Naples, Italy aut NATIONALLICENCE 700 1- Chen Chun-nan Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin Elmer Corp., 850 Lincoln Center Drive, Foster City, CA 94404, USA aut NATIONALLICENCE 700 1- Zuo Lin Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin Elmer Corp., 850 Lincoln Center Drive, Foster City, CA 94404, USA aut NATIONALLICENCE 700 1- Heiner Cheryl Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin Elmer Corp., 850 Lincoln Center Drive, Foster City, CA 94404, USA aut NATIONALLICENCE 700 1- Repetto Monica Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin Elmer Corp., 850 Lincoln Center Drive, Foster City, CA 94404, USA aut NATIONALLICENCE 700 1- Burough Frank Department of Molecular Microbiology and Center for Genetics in Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA aut NATIONALLICENCE 700 1- Schlessinger David Department of Molecular Microbiology and Center for Genetics in Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA aut NATIONALLICENCE 700 1- D'Urso Michele International Institute of Genetics and Biophysics, Via Marconi 10, 80125 Naples, Italy aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/5(1996-05), 659-668 0964-6906 5:5<659 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford