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1.
  • Feng, Ruizhi, et al. (författare)
  • Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
  • 2016
  • Ingår i: The New England journal of medicine. - 1533-4406. ; 374:3, s. 223-232
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Human reproduction depends on the fusion of a mature oocyte with a sperm cell to form a fertilized egg. The genetic events that lead to the arrest of human oocyte maturation are unknown. Methods We sequenced the exomes of five members of a four-generation family, three of whom had infertility due to oocyte meiosis I arrest. We performed Sanger sequencing of a candidate gene, TUBB8, in DNA samples from these members, additional family members, and members of 23 other affected families. The expression of TUBB8 and all other β-tubulin isotypes was assessed in human oocytes, early embryos, sperm cells, and several somatic tissues by means of a quantitative reverse-transcriptase-polymerase-chain-reaction assay. We evaluated the effect of the TUBB8 mutations on the assembly of the heterodimer consisting of one α-tubulin polypeptide and one β-tubulin polypeptide (α/β-tubulin heterodimer) in vitro, on microtubule architecture in HeLa cells, on microtubule dynamics in yeast cells, and on spindle assembly in mouse and human oocytes. Results We identified seven mutations in the primate-specific gene TUBB8 that were responsible for oocyte meiosis I arrest in 7 of the 24 families. TUBB8 expression is unique to oocytes and the early embryo, in which this gene accounts for almost all the expressed β-tubulin. The mutations affect chaperone-dependent folding and assembly of the α/β-tubulin heterodimer, disrupt microtubule behavior on expression in cultured cells, alter microtubule dynamics in vivo, and cause catastrophic spindle-assembly defects and maturation arrest on expression in mouse and human oocytes. Conclusions TUBB8 mutations have dominant-negative effects that disrupt microtubule behavior and oocyte meiotic spindle assembly and maturation, causing female infertility. (Funded by the National Basic Research Program of China and others.).
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2.
  • Kataoka, Ryuho, et al. (författare)
  • Compound auroral micromorphology : ground-based high-speed imaging
  • 2015
  • Ingår i: EARTH PLANETS AND SPACE. - : Springer Science and Business Media LLC. - 1880-5981. ; 67
  • Tidskriftsartikel (refereegranskat)abstract
    • Auroral microphysics still remains partly unexplored. Cutting-edge ground-based optical observations using scientific complementary metal-oxide semiconductor (sCMOS) cameras recently enabled us to observe the fine-scale morphology of bright aurora at magnetic zenith for a variety of rapidly varying features for long uninterrupted periods. We report two interesting examples of combinations of fine-scale rapidly varying auroral features as observed by the sCMOS cameras installed at Poker Flat Research Range (PFRR), Alaska, in February 2014. The first example shows that flickering rays and pulsating modulation simultaneously appeared at the middle of a surge in the pre-midnight sector. The second example shows localized flickering aurora associated with growing eddies at the poleward edge of an arc in the midnight sector.
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