The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus |
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| Authors: | Junichi Kamimura Keiko Wakui Hiroko Kadowaki Yukio Watanabe Kazuaki Miyake Naoki Harada Michiyo Sakamoto Akira Kinoshita Koh-ichiro Yoshiura Tohru Ohta Tatsuya Kishino Mutsuo Ishikawa Masato Kasuga Yoshimitsu Fukushima Norio Niikawa Naomichi Matsumoto |
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| Affiliation: | (1) Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan;(2) Department of Obstetrics and Gynecology, Asahikawa Medical College, Asahikawa, Japan;(3) CREST, Japan Science and Technology Agency, Kawaguchi, Japan;(4) Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan;(5) Department of Clinical Bioinformatics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan;(6) Division of Diabetes, Digestive and Kidney Disease, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine, Kobe, Japan;(7) Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan;(8) Division of Pediatrics, Yamagata City Hospital Saiseikan, Yamagata, Japan;(9) Division of Functional Genomics, Research Center for Frontier Life Sciences, Nagasaki University, Nagasaki, Japan;(10) Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan |
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| Abstract: | ![]()
Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders due to either defective insulin secretion or action. Despite the fact that numerous genetic researches of T2DM have been pursued, the pathogenic mechanisms remain obscure. We encountered a T2DM family associated with a balanced reciprocal translocation, t(3;9)(p21.31;q33.1). To isolate a candidate gene susceptible to T2DM, we constructed physical maps covering both the 3p and 9q breakpoints of the translocation in the family. Consequently, the inositol hexaphosphate kinase 1 gene (IHPK1) (OMIM *606991) was found to be disrupted at the 3p21.31 breakpoint. We then carried out sequence analysis for all coding regions of IHPK1 in 405 unrelated T2DM patients in order to validate whether aberrations of the gene are common in T2DM patients, but we failed to detect any pathogenic changes. The disruption of IHPK1 or another predisposing gene affected by position effect of the translocation may explain the T2DM phenotype at least in this family. Alternatively, the IHPK1disruption in the family is a chance association. |
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| Keywords: | Type 2 diabetes mellitus Chromosomal translocation 3p21.31 9q33.1 Positional cloning IHPK1 |
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