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Title: Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25
Author: Valero Gils, Rebeca
Bayés Colomer, Mònica
Sánchez-Font, Ma. Francisca
Gonzàlez-Angulo, Olga
Gonzàlez-Duarte, Roser
Marfany i Nadal, Gemma
Keywords: Biologia cel·lular
Genètica molecular
Cell biology
Molecular biology
Issue Date: 2001
Publisher: BioMed Central
Abstract: Background: The ubiquitin-dependent protein degradation pathway is essential for the proteolysis of intracellular proteins and peptides. Deubiquitinating enzymes constitute a complex protein family involved in a multitude of cellular processes. The ubiquitin-specific proteases (UBP) are a group of enzymes whose predicted function is to reverse the ubiquitinating reaction by removing ubiquitin from a large variety of substrates. We have lately reported the characterization of human USP25, a specific-ubiquitin protease gene at 21q11.2, with a specific pattern of expression in murine fetal brains and adult testis. Results: Database homology searches at the DNA and protein levels and cDNA library screenings led to the identification of a new UBP member in the human genome, named USP28, at 11q23. This novel gene showed preferential expression in heart and muscle. Moreover, cDNA, expressed sequence tag and RT-PCR analyses provided evidence for alternatively spliced products and tissue-specific isoforms. Concerning function, USP25 overexpression in Down syndrome fetal brains was shown by real-time PCR. Conclusions: On the basis of the genomic and protein sequence as well as the functional data, USP28 and USP25 establish a new subfamily of deubiquitinating enzymes. Both genes have alternatively spliced exons that could generate protein isoforms with distinct tissue-specific activity. The overexpression of USP25 in Down syndrome fetal brains supports the gene-dosage effects suggested for other UBP members related to aneuploidy syndromes.
Note: Reproducció del document publicat a
It is part of: Genome Biology, 2001, vol. 2, núm. 10
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ISSN: 1465-6914
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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