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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Mini Review BOP1 (block of proliferation 1) Audrey Killian, Richard Sesboüé INSERM U614, Faculté de Médecine-Pharmacie de Rouen, 22 boulevard Gambetta, 76183 ROUEN Cedex 1, France (AK, RS) Published in Atlas Database: October 2008 Online updated version : http://AtlasGeneticsOncology.org/Genes/BOP1ID44348ch8q22.html DOI: 10.4267/2042/44551 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology DGAT1, 8q24.3, diacylglycerol O-acyltransferase homolog 1 (mouse); FBXL6, 8q24.3, F-box and leucine-rich repeat protein 6; GPR172A, 8q24.3, G protein-coupled receptor 172A; ADCK5, 8q24.3, aarF domain containing kinase 5; CPSF1, 8q24.3, cleavage and polyadenylation specific factor 1, 160kDa; SLC39A4, 8q24.3, solute carrier family 39 (zinc transporter), member 4. Note: The BOP1 gene is a member of the nucleolar PeBoW-complex (PES1, BOP1, WDR12) essential for cell proliferation and maturation of the large ribosomal subunit. On the basis of experiments performed in yeast, this complex is likely to involve other proteins: GRWD1, RPL3, and ORC6L. A better designation, found in some databases, should be: ribosome biogenesis protein BOP1. Identity Other names: KIAA0124 HGNC (Hugo): BOP1 Location: 8q24.3 Local order: According to the NCBI map viewer, genes flanking BOP1, in centromere to telomere direction on 8q24.3, are: GPAA1, 8q24.3, glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast); CYC1, 8q24.3, cytochrome c-1; SHARPIN, 8q24.3, SHANKassociated RH domain interactor; MAF1, 8q24.3, MAF1 homolog (S. cerevisiae); KIAA1875, 8q24.3; C8orf30A, 8q24.3, chromosome 8 open reading frame 30A; KIAA1833, 8q24.3, hypothetical protein KIAA1833; BOP1, 8q24.3, block of proliferation 1; HSF1, 8q24.3, heat shock transcription factor 1; Fig1 A: Genomic structure of BOP1: the gene extends over 29kb with 16 exons (lower part). Exons 4-16 (upper part) are clustered in 2.6 kb while exons 1-3 are separated by large (2-12 kb) introns. Atlas Genet Cytogenet Oncol Haematol. 2009; 13(9) 622 BOP1 (block of proliferation 1) Killian A, Sesboüé R Fig1 B. Fig2. Position of the WD repeats. DNA/RNA Implicated in Description Colorectal cancer The BOP1 gene is situated 16.6 Mb downstream from the MYC proto-oncogene (8q24.21) and 0.8 Mb upstream from the telomere (Fig1B). No pseudogene has been reported for BOP1, but the NCBI Map viewer (Build 36.3) displays a perfect match encompassing exons 4-16, 64kb centromeric to the gene. Note A copy number increase of the BOP1 gene was detected in 39% of colorectal cancer samples (n=56) and was associated with an increase of its mRNA level. This copy number increase was more frequent than that observed for MYC, a proto-oncogene located 16.6 Mb upstream from BOP1 and was distinct from MYC amplification in 16% of the cases. Transient overexpression of BOP1 in human cells increased the percentage of abnormal mitoses with multipolar spindles. Protein References Transcription BOP1 mRNA (NM_015201) has a size of 2422 bp. Pseudogene Killian A, Le Meur N, Sesboüé R, Bourguignon J, et al. Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability. Oncogene. 2004 Nov 11;23(53):8597-602 Description The Ribosome biogenesis protein BOP1 consists of 746 amino acids and has a molecular weight of 83.63 kDa. It contains 7 WD repeats. Hölzel M, Rohrmoser M, Schlee M, Grimm T, et al. Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation. J Cell Biol. 2005 Aug 1;170(3):367-78 Expression BOP1 is expressed ubiquitously and found in nearly all tissues at similar levels. Grimm T, Hölzel M, Rohrmoser M, Harasim T, et al. Dominantnegative Pes1 mutants inhibit ribosomal RNA processing and cell proliferation via incorporation into the PeBoW-complex. Nucleic Acids Res. 2006;34(10):3030-43 Localisation Nucleus, nucleolus. Killian A, Sarafan-Vasseur N, Sesboüé R, Le Pessot F, Blanchard F, Lamy A, Laurent M, Flaman JM, Frébourg T. Contribution of the BOP1 gene, located on 8q24, to colorectal tumorigenesis. Genes Chromosomes Cancer. 2006 Sep;45(9):874-81 Function Required for maturation of the 25S and 5.8S ribosomal RNAs. Essential for cell proliferation. Involved in chromosomal segregation. Rohrmoser M, Hölzel M, Grimm T, Malamoussi A, et al. Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit. Mol Cell Biol. 2007 May;27(10):3682-94 Homology Mus musculus Bop1; Rattus norvegicus Bop1; Equus caballus BOP1; Bos taurus BOP1. Mutations This article should be referenced as such: Killian A, Sesboüé R. BOP1 (block of proliferation 1). Atlas Genet Cytogenet Oncol Haematol. 2009; 13(9):622-623. Note None described to date. Atlas Genet Cytogenet Oncol Haematol. 2009; 13(9) 623