Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: Hematological, nephrological, and otological studies of heterozygous KO mice

Tadashi Matsushita, Hideo Hayashi, Shinji Kunishima, Mutsuharu Hayashi, Makoto Ikejiri, Kyosuke Takeshita, Yukio Yuzawa, Tatsuya Adachi, Kanji Hirashima, Michihiko Sone, Koji Yamamoto, Akira Takagi, Akira Katsumi, Kumi Kawai, Tomoyo Nezu, Masahide Takahashi, Tsutomu Nakashima, Tomoki Naoe, Tetsuhito Kojima, Hidehiko Saito

研究成果: Article査読

42 被引用数 (Scopus)

抄録

Among three different isoforms of non-muscle myosin heavy chains (NMMHCs), only NMMHCA is associated with inherited human disease, called MYH9 disorders, characterized by macrothrombocytopenia and characteristic granulocyte inclusions. Here targeted gene disruption was performed to understand fundamental as well as pathological role of the gene for NMMHCA, MYH9. Heterozygous intercrosses yielded no homozygous animals among 552 births, suggesting that MYH9 expression is required for embryonic development. In contrast, MYH9+/- mice were viable and fertile without gross anatomical, hematological, and nephrological abnormalities. Immunofluorescence analysis also showed the normal cytoplasmic distribution of NMMHCA. We further measured the auditory brainstem response and found two of six MYH9+/- mice had hearing losses, whereas the remaining four were comparable to wild-type mice. Such observation may parallel the diverse expression of Alport's manifestations of human individuals with MYH9 disorders and suggest the limited requirement of the gene for maintenance and function of specific organs.

本文言語English
ページ(範囲)1163-1171
ページ数9
ジャーナルBiochemical and Biophysical Research Communications
325
4
DOI
出版ステータスPublished - 24-12-2004
外部発表はい

All Science Journal Classification (ASJC) codes

  • 生物理学
  • 生化学
  • 分子生物学
  • 細胞生物学

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