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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 Medicina Neurobiologia Cell biology Molecular biology Medicine Neurobiology |
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 http://dx.doi.org/10.1186/gb-2001-2-10-research0043 |
It is part of: | Genome Biology, 2001, vol. 2, núm. 10 |
URI: | http://hdl.handle.net/2445/7381 |
Related resource: | http://dx.doi.org/10.1186/gb-2001-2-10-research0043 |
ISSN: | 1465-6914 |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) |
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