Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

@article{Tarpey2007MutationsIU,
  title={Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation},
  author={Patrick S. Tarpey and Frances Lucy Raymond and Lam Son Nguyen and Jayson D Rodriguez and Anna Hackett and Lucianne Vandeleur and Raffaella Smith and C Shoubridge and Sarah J Edkins and Claire Stevens and Sarah O'meara and Calli Tofts and Syd Barthorpe and Gemma Buck and Jennifer Cole and Kelly Halliday and Katy Hills and David Jones and Tatiana Mironenko and Janet Perry and Jennifer Varian and Sofie West and Sara Widaa and John Teague and Ed Dicks and Adam P. Butler and Andrew Menzies and David G. Richardson and Andrew Jenkinson and Rebecca Shepherd and Keiran M Raine and Jenny Moon and Yin Deng Luo and Josep Parnau and Shambhu S Bhat and Alison Gardner and Mark Corbett and Douglas A. Brooks and Paul Thomas and Emma J. Parkinson-Lawrence and Mary E M Porteous and John P Warner and Tracy Dianne Sanderson and Pauline Pearson and Richard J. Simensen and Cindy Skinner and George M Hoganson and Duane W. Superneau and Richard Wooster and Martin Bobrow and Gillian Turner and Roger E Stevenson and Charles E. Schwartz and P. Andrew Futreal and Anand K. Srivastava and Michael R. Stratton and Jozef G{\'e}cz},
  journal={Nature Genetics},
  year={2007},
  volume={39},
  pages={1127-1133}
}
Nonsense-mediated mRNA decay (NMD) is of universal biological significance. It has emerged as an important global RNA, DNA and translation regulatory pathway. By systematically sequencing 737 genes (annotated in the Vertebrate Genome Annotation database) on the human X chromosome in 250 families with X-linked mental retardation, we identified mutations in the UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B) leading to protein truncations in three families: two with the Lujan… CONTINUE READING

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Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X–linked mental retardation

  • Tarpey, P.S
  • Am. J. Hum. Genet
  • 2006

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