RGD Reference Report - Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. - Rat Genome Database

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Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family.

Authors: Kleyn, PW  Fan, W  Kovats, SG  Lee, JJ  Pulido, JC  Wu, Y  Berkemeier, LR  Misumi, DJ  Holmgren, L  Charlat, O  Woolf, EA  Tayber, O  Brody, T  Shu, P  Hawkins, F  Kennedy, B  Baldini, L  Ebeling, C  Alperin, GD  Deeds, J  Lakey, ND  Culpepper, J  Chen, H  Glucksmann-Kuis, MA  Carlson, GA  Duyk, GM  Moore, KJ 
Citation: Kleyn PW, etal., Cell. 1996 Apr 19;85(2):281-90.
RGD ID: 1625565
Pubmed: PMID:8612280   (View Abstract at PubMed)

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 regulation. Variation in the relative abundance of alternative splice products is observed between inbred mouse strains and appears to correlate with an intron length polymorphism. This allele of tub is a candidate for a previously reported diet-induced obesity quantitative trait locus on mouse chromosome 7.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
obesity susceptibilityISOTub (Mus musculus)1625565; 1625565DNA:splice-site mutationRGD 
obesity susceptibilityIAGP 1625565DNA:splice-site mutationRGD 

Objects Annotated

Genes (Rattus norvegicus)
Tub  (TUB bipartite transcription factor)

Genes (Mus musculus)
Tub  (TUB bipartite transcription factor)

Genes (Homo sapiens)
TUB  (TUB bipartite transcription factor)


Additional Information