Article
Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family.
Cell - 19 Apr 1996
Kleyn P W, Fan W, Kovats S G, Lee J J, Pulido J C, Wu Y, Berkemeier L R, Misumi D J, Holmgren L, Charlat O, Woolf E A, Tayber O, Brody T, Shu P, Hawkins F, Kennedy B, Baldini L, Ebeling C, Alperin G D, Deeds J, Lakey N D, Culpepper J, Chen H, Glücksmann-Kuis M A, Carlson G A, Duyk G M, Moore K J
Abstract excerpt
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...
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