The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a

JM Jones, JD Huang, V Mermall… - Human Molecular …, 2000 - academic.oup.com
JM Jones, JD Huang, V Mermall, BA Hamilton, MS Mooseker, A Escayg, NG Copeland…
Human Molecular Genetics, 2000academic.oup.com
Exon shuffling is thought to be an important mechanism for evolution of new genes. Here we
show that the mouse neurological mutation flailer (flr) expresses a novel gene that combines
the promoter and first two exons of guanine nucleotide binding protein beta 5 (Gnb5) with
the C-terminal exons of the closely linked Myosin 5A (MyoVA) gene (Myo5a). The flailer
protein, which is expressed predominantly in brain, contains the N-terminal 83 amino acids
of Gnb5 fused in-frame with the C-terminal 711 amino acids of MyoVA, including the …
Abstract
Exon shuffling is thought to be an important mechanism for evolution of new genes. Here we show that the mouse neurological mutation flailer (flr) expresses a novel gene that combines the promoter and first two exons of guanine nucleotide binding protein beta 5 (Gnb5) with the C-terminal exons of the closely linked Myosin 5A (MyoVA) gene (Myo5a). The flailer protein, which is expressed predominantly in brain, contains the N-terminal 83 amino acids of Gnb5 fused in-frame with the C-terminal 711 amino acids of MyoVA, including the globular tail domain that binds organelles for intracellular transport. Biochemical and genetic studies indicate that the flailer protein competes with wild-type MyoVA in vivo, preventing the localization of smooth endoplasmic reticulum vesicles in the dendritic spines of cerebellar Purkinje cells. The flailer protein thus has a dominant-negative mechanism of action with a recessive mode of inheritance due to the dependence of competitive binding on the ratio between mutant and wild-type proteins. The chromosomal arrangement of Myo5a upstream of Gnb5 is consistent with non-homologous recombination as the mutational mechanism. To our knowledge, flailer is the first example of a mammalian mutation caused by germ line exon shuffling between unrelated genes.
Oxford University Press
以上显示的是最相近的搜索结果。 查看全部搜索结果