Pubmed-entry ::= {
  pmid 15221640,
  medent {
    em std {
      year 2004,
      month 7,
      day 14
    },
    cit {
      title {
        name "The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9)
 in a family with type 2 diabetes mellitus."
      },
      authors {
        names ml {
          "Kamimura J",
          "Wakui K",
          "Kadowaki H",
          "Watanabe Y",
          "Miyake K",
          "Harada N",
          "Sakamoto M",
          "Kinoshita A",
          "Yoshiura K",
          "Ohta T",
          "Kishino T",
          "Ishikawa M",
          "Kasuga M",
          "Fukushima Y",
          "Niikawa N",
          "Matsumoto N"
        },
        affil str "Department of Human Genetics, Nagasaki University Graduate
 School of Biomedical Sciences, Nagasaki, Japan."
      },
      from journal {
        title {
          iso-jta "J. Hum. Genet.",
          ml-jta "J Hum Genet",
          issn "1434-5161",
          name "Journal of human genetics"
        },
        imp {
          date std {
            year 2004
          },
          volume "49",
          issue "7",
          pages "360-365",
          language "eng",
          pubstatus ppublish,
          history {
            {
              pubstatus pubmed,
              date std {
                year 2004,
                month 6,
                day 29,
                hour 5,
                minute 0
              }
            },
            {
              pubstatus medline,
              date std {
                year 2004,
                month 8,
                day 25,
                hour 5,
                minute 0
              }
            },
            {
              pubstatus received,
              date std {
                year 2004,
                month 3,
                day 10
              }
            },
            {
              pubstatus accepted,
              date std {
                year 2004,
                month 3,
                day 31
              }
            },
            {
              pubstatus aheadofprint,
              date std {
                year 2004,
                month 6,
                day 18
              }
            },
            {
              pubstatus other,
              date std {
                year 2004,
                month 6,
                day 29,
                hour 5,
                minute 0
              }
            }
          }
        }
      },
      ids {
        pubmed 15221640,
        doi "10.1007/s10038-004-0158-z"
      }
    },
    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 IHPK1 disruption in the family is a chance association.",
    mesh {
      {
        term "Adolescent"
      },
      {
        term "Chromosomes, Artificial, Bacterial"
      },
      {
        mp TRUE,
        term "Chromosomes, Human, Pair 3"
      },
      {
        mp TRUE,
        term "Chromosomes, Human, Pair 9"
      },
      {
        term "Cloning, Molecular"
      },
      {
        term "Cosmids",
        qual {
          {
            subh "metabolism"
          }
        }
      },
      {
        term "DNA Mutational Analysis"
      },
      {
        term "Diabetes Mellitus, Type 2",
        qual {
          {
            mp TRUE,
            subh "genetics"
          }
        }
      },
      {
        term "Exons"
      },
      {
        term "Family Health"
      },
      {
        term "Female"
      },
      {
        term "Humans"
      },
      {
        term "In Situ Hybridization, Fluorescence"
      },
      {
        term "Male"
      },
      {
        term "Models, Genetic"
      },
      {
        term "Mutation"
      },
      {
        term "Phosphotransferases (Phosphate Group Acceptor)",
        qual {
          {
            mp TRUE,
            subh "genetics"
          }
        }
      },
      {
        term "Sequence Analysis, DNA"
      },
      {
        term "Software"
      },
      {
        mp TRUE,
        term "Translocation, Genetic"
      }
    },
    substance {
      {
        type ec,
        cit "2.7.4.-",
        name "Phosphotransferases (Phosphate Group Acceptor)"
      },
      {
        type ec,
        cit "2.7.4.21",
        name "IHPK1 protein, human"
      }
    },
    pmid 15221640,
    pub-type {
      "Journal Article",
      "Research Support, Non-U.S. Gov't"
    },
    status medline
  }
}

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