Identification and Characterization of the Mouse Obesity Gene tubby: A Member of a Novel Gene Family

@article{Kleyn1996IdentificationAC,
  title={Identification and Characterization of the Mouse Obesity Gene tubby: A Member of a Novel Gene Family},
  author={Patrick W. Kleyn and Wei Fan and Steve G. Kovats and John J. Y. Lee and Jacqueline C Pulido and Ye Wu and Lucy R Berkemeier and Don J Misumi and Lisa M. Holmgren and Olga Charlat and Elizabeth A. Woolf and Olga Tayber and Thomas Brody and Pei Shu and Fiona Hawkins and Brenda Kennedy and Linda M. Baldini and Chris Ebeling and Geoffrey D Alperin and Jim Deeds and Nathan D Lakey and J Wesley Culpepper and Hong Chen and M.Alexandra Gl{\"u}cksmann-Kuis and George A. Carlson and Geoffrey M. Duyk and Karen J. Moore},
  journal={Cell},
  year={1996},
  volume={85},
  pages={281-290}
}
The mutated gene responsible for the tubby obesity phenotype has been identified by positional cloning. A single base change within a splice donor site results in the incorrect retention of a single intron in the mature tub mRNA transcript. The consequence of this mutation is the substitution of the carboxy-terminal 44 amino acids with 24 intron-encoded amino acids. The normal transcript appears to be abundantly expressed in the hypothalamus, a region of the brain involved in body weight… CONTINUE READING
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