Alternative titles; symbols
HGNC Approved Gene Symbol: PES1
Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38) : 22:30,576,625-30,607,013 (from NCBI)
PES1, BOP1 (610596), and WDR12 (616620) form the core PEBOW complex, which is required for processing of ribosomal RNAs (rRNAs) Kellner et al. (2015).
Using retroviral insertional mutagenesis in the zebrafish germ line, Allende et al. (1996) identified the 'pescadillo' gene (Pes). By EST database searching, they identified a cDNA encoding PES1, the human homolog of zebrafish Pes. The deduced 588-amino acid PES1 protein is 74% identical to the zebrafish sequence. The authors noted the presence of a highly acidic region at the C terminus and found that the protein has an alpha-helix structure. Allende et al. (1996) detected high expression of Pes during the first 3 days of zebrafish development, but no expression in any adult tissue except ovary.
In the mouse Pes1 sequence, Haque et al. (2000) identified a BRCT (breast cancer C-terminal) domain, which was originally identified in BRCA1 (113705), a p53 (191170)-binding protein. Northern blot analysis revealed ubiquitous expression of a 2.3-kb transcript in mouse tissues, with particularly high expression in adult and fetal liver, followed by adult kidney and testis; lowest expression was found in skeletal muscle.
Using glass-based high-density DNA arrays, Kinoshita et al. (2001) found high expression of mouse Pes1 in late-passage p53 -/- astrocytes. Sequence analysis predicted that PES1 contains numerous potential phosphorylation sites and conserved consensus sequences for the covalent attachment of SUMO1 (UBL1; 601912). Immunofluorescence microscopy demonstrated PES1 colocalization with nucleolin (NCL; 164035), a nucleolus marker. Immunoblot analysis showed that PES1 is expressed as an unmodified 72-kD protein and a SUMO1-modified 92-kD protein. In situ hybridization analysis revealed wide and high expression of Pes1 in embryonic mouse brain and spinal cord. Pes1 expression was upregulated in malignant, late-passage mouse astrocytes. Immunofluorescence microscopy indicated PES1 upregulation occurs in human breast carcinoma cells compared with normal mammary epithelial cells and in primary glioblastoma cells compared with cells from matching margin tissue. Using BrdU proliferation analysis, Kinoshita et al. (2001) found that proliferation only occurs in HeLa cells expressing PES1. Kinoshita et al. (2001) concluded that PES1 is necessary for cell cycle progression and that the BRCT domain is essential for PES1 activity.
Kellner et al. (2015) found that the human PEBOW complex migrated as a small core complex containing only PES1, BOP1, and WDR12 and as a larger complex that also contained DDX27 (616620). Knockdown of PES1 reduced the ratios of 28S, 32S, and 18S rRNAs to 47S precursor rRNA. Knockdown of DDX27 had a similar, but weaker, effect.
By genomic sequence analysis, Dunham et al. (1999) mapped the PES1 gene to 22q12.1, a chromosome in which deletions are frequently found in astrocytomas. Haque et al. (2000) mapped the mouse gene to chromosome 11 between the markers D11Mit72 and D11Mit106.
Allende, M. L., Amsterdam, A., Becker, T., Kawakami, K., Gaiano, N., Hopkins, N. Insertional mutagenesis in zebrafish identifies two novel genes, pescadillo and dead eye, essential for embryonic development. Genes Dev. 10: 3141-3155, 1996. [PubMed: 8985183] [Full Text: https://doi.org/10.1101/gad.10.24.3141]
Dunham, I., Shimizu, N., Roe, B. A., Chissoe, S., Hunt, A. R., Collins, J. E., Bruskiewich, R., Beare, D. M., Clamp, M., Smink, L. J., Ainscough, R., Almeida, J. P., and 213 others. The DNA sequence of human chromosome 22. Nature 402: 489-495, 1999. Note: Erratum: Nature 404: 904 only, 2000. [PubMed: 10591208] [Full Text: https://doi.org/10.1038/990031]
Haque, J., Boger, S., Li, J., Duncan, S. A. The murine Pes1 gene encodes a nuclear protein containing a BRCT domain. Genomics 70: 201-210, 2000. [PubMed: 11112348] [Full Text: https://doi.org/10.1006/geno.2000.6375]
Kellner, M., Rohrmoser, M., Forne, I., Voss, K., Burger, K., Muhl, B., Gruber-Eber, A., Kremmer, E., Imhof, A., Eick, D. DEAD-box helicase DDX27 regulates 3-prime end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex. Exp. Cell Res. 334: 146-159, 2015. [PubMed: 25825154] [Full Text: https://doi.org/10.1016/j.yexcr.2015.03.017]
Kinoshita, Y., Jarell, A. D., Flaman, J. M., Foltz, G., Schuster, J., Sopher, B. L., Irvin, D. K., Kanning, K., Kornblum, H. I., Nelson, P. S., Hieter, P., Morrison, R. S. Pescadillo, a novel cell cycle regulatory protein abnormally expressed in malignant cells. J. Biol. Chem. 276: 6656-6665, 2001. [PubMed: 11071894] [Full Text: https://doi.org/10.1074/jbc.M008536200]