SEPT12 mutations cause male infertility with defective sperm annulus.

  title={SEPT12 mutations cause male infertility with defective sperm annulus.},
  author={Yung-Che Kuo and Ying-Hung Lin and Hau-Inh Chen and Ya-yun Wang and Yu-Wei Chiou and Hong Cheu Lin and H Pan and C Wu and Shih-Ming Su and Chao-Chin Hsu and Pao-Lin Kuo},
  journal={Human mutation},
  volume={33 4},
Septins are members of the GTPase superfamily, which has been implicated in diverse cellular functions including cytokinesis and morphogenesis. Septin 12 (SEPT12) is a testis-specific gene critical for the terminal differentiation of male germ cells. We report the identification of two missense SEPT12 mutations, c.266C>T/p.Thr89Met and c.589G>A/p.Asp197Asn, in infertile men. Both mutations are located inside the GTPase domain and may alter the protein structure as suggested by in silico… CONTINUE READING
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Distinct roles of septins in cytokinesis: SEPT9 mediates midbody abscission

  • MP Estey, C Di Ciano-Oliveira, CD Froese, MT Bejide, WS. Trimble
  • J Cell Biol 191:741–749.
  • 2010
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