The 350-fold compacted Fugu parkin gene is structurally and functionally similar to human Parkin

Mutations in the human parkin gene ( huParkin) are the predominant genetic cause of familial parkinsonism. The huParkin locus, spanning about 1.4 Mb, is one of the largest in the human genome. Despite its huge size, huParkin codes for a rather short transcript of about 4.5 kb. To gain an insight int...

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Bibliographic Details
Published in:Gene 2005-02, Vol.346, p.97-104
Main Authors: Yu, Wei-Ping, Tan, Jeanne M.M., Chew, Katherine C.M., Oh, Tania, Kolatkar, Prasanna, Venkatesh, Byrappa, Dawson, Ted M., Leong Lim, Kah
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Base Sequence
Cloning, Molecular
DNA Primers
Dystrophin
Fugu
Fugu rubripes
Humans
Molecular Sequence Data
Parkinson's disease
Promoter Regions, Genetic
Reverse Transcriptase Polymerase Chain Reaction
Sequence Homology, Amino Acid
Takifugu - genetics
Transcription, Genetic
Transcriptional regulation
Ubiquitin ligase
Ubiquitin-Protein Ligases - chemistry
Ubiquitin-Protein Ligases - genetics
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Summary:Mutations in the human parkin gene ( huParkin) are the predominant genetic cause of familial parkinsonism. The huParkin locus, spanning about 1.4 Mb, is one of the largest in the human genome. Despite its huge size, huParkin codes for a rather short transcript of about 4.5 kb. To gain an insight into the structure, function and evolutionary history of huParkin, we have characterized the pufferfish [ Fugu rubripes (Fugu)] ortholog of huParkin. A remarkable feature of the Fugu parkin gene ( fuparkin) is its unusually compact size. It spans only about 4 kb and is thus 350-fold smaller than its human ortholog. The Fugu and human parkin genes are otherwise highly similar in their genomic organization and expression pattern. Furthermore, like human Parkin, Fugu parkin also functions as an ubiquitin ligase. These shared features between fuparkin and huParkin suggest that the physiological function and regulation of the parkin gene are conserved during the evolution of vertebrates. Conceivably, the compact locus of fuparkin could serve as a useful model to understand the transcriptional regulation of huParkin.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2004.09.022