title: USP25, a novel gene encoding a deubiquitinating enzyme, is located in the gene-poor region 21q11.2.
abstract: 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.
authors.affiliation: Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Avinguda Diagonal 645, Barcelona, 08028, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Valero
authors.forename: G
authors.initials: G
authors.lastname: Marfany
authors.forename: O
authors.initials: O
authors.lastname: González-Angulo
authors.forename: G
authors.initials: G
authors.lastname: González-González
authors.forename: L
authors.initials: L
authors.lastname: Puelles
authors.forename: R
authors.initials: R
authors.lastname: Gonzàlez-Duarte
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D001921:Brain / Q000196:embryology / Q000201:enzymology; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003001:Cloning, Molecular; D017124:Conserved Sequence; D018076:DNA, Complementary / Q000032:analysis; D004314:Down Syndrome / Q000235:genetics; D010450:Endopeptidases / Q000235:genetics* / Q000378:metabolism; D005091:Exons / Q000235:genetics; D015870:Gene Expression; D006801:Humans; D017403:In Situ Hybridization; D007438:Introns / Q000235:genetics; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000201:enzymology; D009928:Organ Specificity; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D013737:Testis / Q000201:enzymology; D043222:Ubiquitin Thiolesterase; D014452:Ubiquitins / Q000378:metabolism*
chemical_list: D018076:DNA, Complementary; C404488:USP25 protein, human; D014452:Ubiquitins; D010450:Endopeptidases; D043222:Ubiquitin Thiolesterase