caa a22 4500 445861959 CHVBK 20180317145446.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s00439-010-0906-4 doi (NATIONALLICENCE)springer-10.1007/s00439-010-0906-4 Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis [Elektronische Daten] [Minako Hijikata, Ikumi Matsushita, Goh Tanaka, Tomoko Tsuchiya, Hideyuki Ito, Katsushi Tokunaga, Jun Ohashi, Sakae Homma, Yoichiro Kobashi, Yoshio Taguchi, Arata Azuma, Shoji Kudoh, Naoto Keicho] Diffuse panbronchiolitis (DPB) is a rare complex genetic disease affecting East Asians and is strongly associated with the class I human leukocyte antigens (HLA)-B54 in Japanese and HLA-A11 in Koreans. We recently showed that an HLA-associated major susceptibility gene for DPB is probably located within the 200kb in the class I region 300kb telomeric of the HLA-B locus on the chromosome 6p21.3. We cloned two novel mucin-like genes designated panbronchiolitis related mucin-like 1 and 2 (PBMUCL1 and PBMUCL2) in the candidate region, which form a mucin-like gene cluster together with two adjacent genes, MUC21 and DPCR1. PBMUCL1 gene expression was remarkably upregulated by polyinosine-polycytidylic acid [poly(I:C)] stimulation in normal human bronchial epithelial cells redifferentiated at the air-liquid interface. We found genetic polymorphisms in PBMUCL1 gene which were associated with DPB: the A-allele of the PBMUCL1 intron 2 single nucleotide polymorphism (SNP) was positively associated and variable numbers of tandem repeats (VNTR) polymorphism in exon 3 (1,890-base pair deletion) was negatively associated. Despite a strong association with HLA-B in the Japanese, the mucin-like gene PBMUCL1 is also one of the candidate genes of DPB susceptibility. Springer-Verlag, 2010 Hijikata Minako Department of Respiratory Diseases, Research Institute, National Center for Global Health and Medicine, 162-8655, Tokyo, Japan aut Matsushita Ikumi Department of Respiratory Diseases, Research Institute, National Center for Global Health and Medicine, 162-8655, Tokyo, Japan aut Tanaka Goh Department of Respiratory Diseases, Research Institute, National Center for Global Health and Medicine, 162-8655, Tokyo, Japan aut Tsuchiya Tomoko Department of Respiratory Diseases, Research Institute, National Center for Global Health and Medicine, 162-8655, Tokyo, Japan aut Ito Hideyuki Department of Thoracic Surgery, National Center for Global Health and Medicine, 162-8655, Tokyo, Japan aut Tokunaga Katsushi Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 113-0033, Tokyo, Japan aut Ohashi Jun Molecular and Genetic Epidemiology, Department of Public Health Medicine, Doctoral Program in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, 305-8077, Tsukuba, Ibaraki, Japan aut Homma Sakae Department of Respiratory Medicine, Toho University School of Medicine, 143-8541, Tokyo, Japan aut Kobashi Yoichiro Department of Pathology, Tenri Hospital, 632-8552, Nara, Japan aut Taguchi Yoshio Department of Respiratory Medicine, Tenri Hospital, 632-8552, Nara, Japan aut Azuma Arata Division of Pulmonary Medicine, Infectious Diseases and Oncology, Department of Internal Medicine, Nippon Medical School, 113-8602, Tokyo, Japan aut Kudoh Shoji Fukujuji Hospital, 204-8522, Tokyo, Japan aut Keicho Naoto Department of Respiratory Diseases, Research Institute, National Center for Global Health and Medicine, 162-8655, Tokyo, Japan aut Human Genetics Springer-Verlag 129/2(2011-02-01), 117-128 0340-6717 129:2<117 2011 129 439 https://doi.org/10.1007/s00439-010-0906-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0906-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hijikata Minako Department of Respiratory Diseases, Research Institute, National Center for Global Health and Medicine, 162-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Matsushita Ikumi Department of Respiratory Diseases, Research Institute, National Center for Global Health and Medicine, 162-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Tanaka Goh Department of Respiratory Diseases, Research Institute, National Center for Global Health and Medicine, 162-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Tsuchiya Tomoko Department of Respiratory Diseases, Research Institute, National Center for Global Health and Medicine, 162-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Ito Hideyuki Department of Thoracic Surgery, National Center for Global Health and Medicine, 162-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Tokunaga Katsushi Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, 113-0033, Tokyo, Japan aut NATIONALLICENCE 700 1- Ohashi Jun Molecular and Genetic Epidemiology, Department of Public Health Medicine, Doctoral Program in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, 305-8077, Tsukuba, Ibaraki, Japan aut NATIONALLICENCE 700 1- Homma Sakae Department of Respiratory Medicine, Toho University School of Medicine, 143-8541, Tokyo, Japan aut NATIONALLICENCE 700 1- Kobashi Yoichiro Department of Pathology, Tenri Hospital, 632-8552, Nara, Japan aut NATIONALLICENCE 700 1- Taguchi Yoshio Department of Respiratory Medicine, Tenri Hospital, 632-8552, Nara, Japan aut NATIONALLICENCE 700 1- Azuma Arata Division of Pulmonary Medicine, Infectious Diseases and Oncology, Department of Internal Medicine, Nippon Medical School, 113-8602, Tokyo, Japan aut NATIONALLICENCE 700 1- Kudoh Shoji Fukujuji Hospital, 204-8522, Tokyo, Japan aut NATIONALLICENCE 700 1- Keicho Naoto Department of Respiratory Diseases, Research Institute, National Center for Global Health and Medicine, 162-8655, Tokyo, Japan aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/2(2011-02-01), 117-128 0340-6717 129:2<117 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer