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 Identity homolog 1 (mouse); FBXL6, 8q24.3, F-box and Other names: KIAA0124 leucine-rich repeat 6; GPR172A, 8q24.3, G HGNC (Hugo): BOP1 protein-coupled receptor 172A; ADCK5, 8q24.3, aarF domain containing kinase 5; CPSF1, 8q24.3, cleavage Location: 8q24.3 and polyadenylation specific factor 1, 160kDa; Local order: According to the NCBI map viewer, SLC39A4, 8q24.3, solute carrier family 39 (zinc flanking BOP1, in centromere to telomere transporter), member 4. direction on 8q24.3, are: Note: The BOP1 is a member of the nucleolar GPAA1, 8q24.3, glycosylphosphatidylinositol anchor PeBoW-complex (PES1, BOP1, WDR12) essential for attachment protein 1 homolog (yeast); CYC1, 8q24.3, proliferation and maturation of the large ribosomal cytochrome c-1; SHARPIN, 8q24.3, SHANK- subunit. associated RH domain interactor; MAF1, 8q24.3, On the basis of experiments performed in yeast, this MAF1 homolog (S. cerevisiae); KIAA1875, 8q24.3; complex is likely to involve other : GRWD1, C8orf30A, 8q24.3, 8 open reading frame RPL3, and ORC6L. 30A; KIAA1833, 8q24.3, hypothetical protein A better designation, found in some databases, should KIAA1833; BOP1, 8q24.3, block of proliferation 1; be: biogenesis protein BOP1. 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 Note the MYC proto-oncogene (8q24.21) and 0.8 Mb A copy number increase of the BOP1 gene was upstream from the telomere (Fig1B). detected in 39% of colorectal cancer samples (n=56) Transcription and was associated with an increase of its mRNA level. This copy number increase was more frequent than that BOP1 mRNA (NM_015201) has a size of 2422 bp. observed for MYC, a proto-oncogene located 16.6 Mb Pseudogene upstream from BOP1 and was distinct from MYC No pseudogene has been reported for BOP1, but the amplification in 16% of the cases. NCBI Map viewer (Build 36.3) displays a perfect Transient overexpression of BOP1 in cells match encompassing exons 4-16, 64kb centromeric to increased the percentage of abnormal mitoses with the gene. multipolar spindles. Protein References Killian A, Le Meur N, Sesboüé R, Bourguignon J, et al. Description Inactivation of the RRB1-Pescadillo pathway involved in The Ribosome biogenesis protein BOP1 consists of 746 ribosome biogenesis induces chromosomal instability. Oncogene. 2004 Nov 11;23(53):8597-602 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 Expression required for ribosome biogenesis and cell proliferation. J Cell Biol. 2005 Aug 1;170(3):367-78 BOP1 is expressed ubiquitously and found in nearly all tissues at similar levels. Grimm T, Hölzel M, Rohrmoser M, Harasim T, et al. Dominant- negative Pes1 mutants inhibit ribosomal RNA processing and Localisation cell proliferation via incorporation into the PeBoW-complex. Nucleic Acids Res. 2006;34(10):3030-43 Nucleus, . Killian A, Sarafan-Vasseur N, Sesboüé R, Le Pessot F, Function Blanchard F, Lamy A, Laurent M, Flaman JM, Frébourg T. Required for maturation of the 25S and 5.8S ribosomal Contribution of the BOP1 gene, located on 8q24, to colorectal tumorigenesis. Genes Cancer. 2006 RNAs. Essential for cell proliferation. Involved in Sep;45(9):874-81 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 Mus musculus Bop1; Rattus norvegicus Bop1; Equus required for maturation of the 60S ribosomal subunit. Mol Cell caballus BOP1; Bos taurus BOP1. Biol. 2007 May;27(10):3682-94 Mutations This article should be referenced as such: Killian A, Sesboüé R. BOP1 (block of proliferation 1). Atlas Note Genet Cytogenet Oncol Haematol. 2009; 13(9):622-623. None described to date.

Atlas Genet Cytogenet Oncol Haematol. 2009; 13(9) 623