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

被引：289

作者：

Kleyn, PW ^{[1
]}

Fan, W ^{[1
]}

Kovats, SG ^{[1
]}

Lee, JJ ^{[1
]}

Pulido, JC ^{[1
]}

Wu, Y ^{[1
]}

Berkemeier, LR ^{[1
]}

Misumi, DJ ^{[1
]}

Holmgren, L ^{[1
]}

Charlat, O ^{[1
]}

Woolf, EA ^{[1
]}

Tayber, O ^{[1
]}

Brody, T ^{[1
]}

Shu, P ^{[1
]}

Hawkins, F ^{[1
]}

Kennedy, B ^{[1
]}

Baldini, L ^{[1
]}

Ebeling, C ^{[1
]}

Alperin, GD ^{[1
]}

Deeds, J ^{[1
]}

Lakey, ND ^{[1
]}

Culpepper, J ^{[1
]}

Chen, H ^{[1
]}

GlucksmannKuis, MA ^{[1
]}

Carlson, GA ^{[1
]}

Duyk, GM ^{[1
]}

Moore, KJ ^{[1
]}

机构：

[1] MCLAUGHLIN RES INST BIOMED SCI,GREAT FALLS,MT 59405

来源：

CELL | 1996年 / 85卷 / 02期

关键词：

D O I：

10.1016/S0092-8674(00)81104-6

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：281 / 290

页数：10

共 44 条

[1] A GENETIC-ANALYSIS OF RELATIVE WEIGHT AMONG 4,020 TWIN PAIRS, WITH AN EMPHASIS ON SEX EFFECTS [J].