USP25, a novel gene encoding a deubiquitinating enzyme, is located in the gene-poor region 21q11.2
| Autor: | Luis Puelles, Gemma Marfany, Rebeca Valero, Olga González-Angulo, Gertrudis González-González, Roser Gonzàlez-Duarte |
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| Rok vydání: | 1999 |
| Předmět: |
Male
DNA Complementary Chromosomes Human Pair 21 Molecular Sequence Data Gene Expression Ubiquitin C-Terminal Hydrolase Protein degradation Gene dosage Homology (biology) Deubiquitinating enzyme Mice Ubiquitin Endopeptidases Testis Gene expression Genetics Animals Humans Amino Acid Sequence Cloning Molecular Muscle Skeletal Ubiquitins Gene Conserved Sequence In Situ Hybridization Base Sequence biology Brain Exons Sequence Analysis DNA Blotting Northern Molecular biology Introns Organ Specificity biology.protein Down Syndrome Sequence Alignment Ubiquitin Thiolesterase |
| Zdroj: | Genomics r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu |
| ISSN: | 0888-7543 |
| Popis: | We have identified a new gene, USP25, spanning over 150 kb at 21q11. 2, one of the lowest gene-density regions of the human genome. USP25 is made up of 25 exons and encodes a 1087-aa protein. Database comparisons reveal high homology with members of the ubiquitin protease family (UBP). Basal expression was observed in all human tissues tested, and two main transcripts were identified. The homologous murine gene has also been characterized. In situ hybridization in mouse embryonic brains showed a clear correlation of expression with proliferative neuroepithelial cells and postmitotic neurons. Moreover, high expression was observed in adult mouse testis. UBPs belong to a complex family of deubiquitinating enzymes that specifically cleave ubiquitin conjugates on a great variety of substrates. These enzymes have an essential role in protein degradation via the 26S proteasome and thus regulate many cellular pathways. An increase in USP25 gene dosage in Down syndrome patients could seriously disturb the balance between ubiquitinated and deubiquitinated substrates. |
| Databáze: | OpenAIRE |
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