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Original Article

Identification of the Human Ubiquitin Specific Protease 31 (USP31) Gene: Structure, Sequence and Expression Analysis

, , , , , , & show all
Pages 9-14 | Received 02 Jul 2003, Published online: 11 Jul 2009
 

Abstract

Parkinson's disease (PD) is a common neurodegenerative disorder with clinical features of bradykinesia, rigidity and resting tremor resulting from the deficiency of dopamine in the nigrostriatal system. Recently, PARK6 was identified as a novel locus associated with autosomal recessive PD. Here we report the identification and characterization of a novel human deubiquitylating gene (USP31), which maps to the critical PARK6 region. Database analysis and 5′ RACE identified a 4070 bp cDNA, encoded by 27 exons spanning approximately 105 kbp of genomic sequence. The predicted protein of 1035 amino acids included a conserved ubiquitin hydrolase region (Prosite profile PS50235), a DUSP (domain in ubiquitin specific proteases-Smart00695) and a ubiquitin-like domain (Prosite pattern PS00299). Northern blot analysis revealed a single USP31 transcript of approximately 4 kb, which was primarily expressed in the testis and lung.

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