Three novel integrin β3 subunit missense mutations (H280P, C560F, and G579S) in thrombasthenia, including one (H280P) prevalent in Japanese patients

Hironobu Ambo, Tetsuji Kamata, Makoto Handa, Masashi Taki, Minoru Kuwajima, Yohko Kawai, Atsushi Oda, Mitsuru Murata, Yoshikazu Takada, Kiyoaki Watanabe, Yasuo Ikeda

研究成果: Article査読

40 被引用数 (Scopus)

抄録

We analyzed three unrelated Japanese patients with type II Glanzmann thrombasthenia (GT) for associated mutations. Polymerase chain reaction and subsequent direct sequencing of platelet RNA and genomic DNA revealed three single nucleotide substitutions of the integrin β3 subunit gene (His (CAT)-280 to Pro (CCT), Cys (TGT)-560 to Phe (TTT), and Gly(GGC)-579 to Ser(AGC)). Interestingly, the three unrelated patients all had the H280P mutation; one was homozygous and the other two heterozygous for this mutation. Ectopic expression of wild type and mutant complexes in Chinese hamster ovary cells revealed decreased surface expression of the mutated αIIbβ3 complexes, thus demonstrating that these mutations may result in the mild GT phenotypes. The identification of three unrelated patients having the same mutation (H280P) suggests that this mutation might be prevalent in the Japanese thrombasthenic population.

本文言語English
ページ(範囲)763-768
ページ数6
ジャーナルBiochemical and Biophysical Research Communications
251
3
DOI
出版ステータスPublished - 1998 10月 29

ASJC Scopus subject areas

  • 生物理学
  • 生化学
  • 分子生物学
  • 細胞生物学

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