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

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• 作者：Yu ; Wei-Ping ; Tan ; Jeanne M.M. ; Chew ; Katherine C.M. ; Oh ; Tania ; Kolatkar ; Prasanna ; Venkatesh ; Byrappa ; et. al.
• 关键词：PD ; Parkinson's disease ; RING ; really interesting new gene ; PACRG ; parkin coregulated gene ; ORF ; open reading frame ; PCR ; polymerase chain reaction ; RT ; reverse transcription ; RACE ; rapid amplification of cDNA ends ; TSS ; transcriptional
• 刊名：Gene
• 出版年：2005
• 出版时间：February 14, 2005
• 年：2005
• 卷：346
• 期：Complete
• 页码：97-104
• 全文大小：762 K

文摘

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.