PDGFB platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)
2001-02-01 Marie-Pierre Simon , Georges Maire , Florence Pedeutour AffiliationLaboratoire de Genetique, Hopital de lArchet, 151 route de Saint Antoine de Ginestiere BP 3079, 06202 Nice Cedex 3, France
Identity
HGNC
LOCATION
22q13.1
LOCUSID
ALIAS
IBGC5,PDGF-2,PDGF2,SIS,SSV,c-sis
FUSION GENES
DNA/RNA
Description
The PDGFB gene encodes the human platelet-derived growth factor (PDGF) B chain precursor and is the cellular homologue of the v-sis oncogene. PDGFB gene is 22 kb in size and is composed of 7 exons. The exon 7 and most part of the exon 1 are non coding sequences (white boxes).
Transcription
The PDGFB chain precursor is usually translated from a 3.5 kb transcript. The first exon contains the sequence for the signal peptide preceeded by a 1 kb-long untranslated sequence with potent translation inhibitory activity. A 2.6 kb mRNA which initiates at an alternative exon 1, exon 1A, was described in the human choriocarcinoma cell line JEG-3. It initiates an open reading frame that is continuous with the code for the PDGF B chain precursor but lacks the code for the signal peptide.
Proteins
Description
The PDGFB chains are synthesised as 240 amino acids precursors molecules containing amino and carboxy-terminal propeptides, which are removed by site-specific endopeptidases. Two PDGFB precursor chains associate in dimers to form the mature PDGFBB after proteolysis.
Expression
First isolated from human platelets, the PDGFBB is synthesized by a variety of different cell lineages.
Localisation
Secreted in the extra-cellular medium
Function
The homodimer PDGFBB is a potent growth factor that acts as a mitogen and chemo-attractant for a variety of cells from mesenchymal origin. It has various roles in embryonic development, tissue regeneration, osteogenesis, fibrosis, atherosclerosis, and neoplasia.
Homology
Member of the PDGF/VEGF family
Implicated in
Entity name
Entity name
Entity name
Disease
Infiltrative skin tumours of intermediate malignancy
Prognosis
The prognosis is usually favourable. These tumours are locally aggressive and highly recurrent, but metastases or tumour-related deaths are extremely rare.
Cytogenetics
Dermatofibrosarcoma Protuberans, Giant Cell fibrosarcoma and Bednar tumours present specific cytogenetic features such as reciprocal translocations t(17;22)(q22;q13.1) ( Fig A) or, more often, supernumerary ring chromosomes derived from t(17;22) (B). As shown by FISH analysis, the ring chromosomes contain chromosome 22 centromere and low-level amplification of 22cen-q13.1 and 17q22-qter sequences. To note, in most cases, the derivative chromosome 17 is not present. In contrast, several copies of the derivative chromosome 22 are generally observed.in addition to two apparently normal chromosomes 17
Hybrid gene
Fusion protein
A chimerical COL1A1/PDGFB cDNA sequence fusing COL1A1 exon 29 to PDGFB exon 2 was isolated from the DP T94796 tumour and stably transfected in the Chinese hamster lung fibroblastic cell line PS200 (E).
The T94796 COL1A1/PDGFB chimerical protein sequence retained the COL1A1 N-terminus processing site encoded by the COL1A1 exon 6 and the N and C-terminus PDGFB processing sites encoded by the PDGFB exons 3 and 6 respectively (F).
Mutagenesis experiments and immunodetection with anti-PDGFBB and specific anti-COL1A1/PDGFB antibodies showed that COL1A1/PDGFB expressing cells produced 116 kD chimerical COL1A1/PDGFB precursors chains, which formed dimers and were processed to give active 30 kD PDGFB-like dimers (G).
Oncogenesis
Breakpoints
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 2238087 | 1990 | Brittle bones--fragile molecules: disorders of collagen gene structure and expression. | Byers PH et al |
| 9016532 | 1997 | The human type I collagen mutation database. | Dalgleish R et al |
| 8599739 | 1996 | Soft tissue sarcomas in dermatology. | Fish FS et al |
| 9771975 | 1998 | Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans. | Greco A et al |
| 9739761 | 1998 | Signal transduction via platelet-derived growth factor receptors. | Heldin CH et al |
| 9591728 | 1998 | Fibrosarcomatous ("high-grade") dermatofibrosarcoma protuberans: clinicopathologic and immunohistochemical study of a series of 41 cases with emphasis on prognostic significance. | Mentzel T et al |
| 9790508 | 1998 | COL1A1-PDGFB fusion in a ring chromosome 4 found in a dermatofibrosarcoma protuberans. | Navarro M et al |
| 11170290 | 2001 | Supernumerary ring chromosome in a Bednar tumor (pigmented dermatofibrosarcoma protuberans) is composed of interspersed sequences from chromosomes 17 and 22: a fluorescence in situ hybridization and comparative genomic hybridization analysis. | Nishio J et al |
| 9739023 | 1998 | Various regions within the alpha-helical domain of the COL1A1 gene are fused to the second exon of the PDGFB gene in dermatofibrosarcomas and giant-cell fibroblastomas. | O'Brien KP et al |
| 8978765 | 1996 | Translocation, t(17;22)(q22;q13), in dermatofibrosarcoma protuberans: a new tumor-associated chromosome rearrangement. | Pedeutour F et al |
| 10446987 | 1999 | The dermatofibrosarcoma protuberans-associated collagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB. | Shimizu A et al |
| 11420709 | 2001 | Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22)(q22;q13.1) in Dermatofibrosarcoma protuberans (DP). | Simon MP et al |
| 8988177 | 1997 | Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. | Simon MP et al |
| 10565681 | 1999 | Detection of COL1A1-PDGFB fusion transcripts in dermatofibrosarcoma protuberans by reverse transcription-polymerase chain reaction using archival formalin-fixed, paraffin-embedded tissues. | Wang J et al |
Other Information
Locus ID:
NCBI: 5155
MIM: 190040
HGNC: 8800
Ensembl: ENSG00000100311
Variants:
dbSNP: 5155
ClinVar: 5155
TCGA: ENSG00000100311
COSMIC: PDGFB
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37307823 | 2024 | Cancer-Associated Fibroblasts Promote Lymphatic Metastasis in Cholangiocarcinoma via the PDGF-BB/PDGFR-β Mediated Paracrine Signaling Network. | 6 |
| 38070064 | 2024 | Role of endothelial PDGFB in arterio-venous malformations pathogenesis. | 0 |
| 38156729 | 2024 | Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants. | 0 |
| 38175715 | 2024 | Platelet-derived growth factor subunit-B mediating the effect of dickkopf-1 on acute myocardial infarction risk: a two-step Mendelian randomization study. | 0 |
| 37307823 | 2024 | Cancer-Associated Fibroblasts Promote Lymphatic Metastasis in Cholangiocarcinoma via the PDGF-BB/PDGFR-β Mediated Paracrine Signaling Network. | 6 |
| 38070064 | 2024 | Role of endothelial PDGFB in arterio-venous malformations pathogenesis. | 0 |
| 38156729 | 2024 | Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants. | 0 |
| 38175715 | 2024 | Platelet-derived growth factor subunit-B mediating the effect of dickkopf-1 on acute myocardial infarction risk: a two-step Mendelian randomization study. | 0 |
| 36351762 | 2023 | The Role of Platelet-Derived Growth Factor in Focal Segmental Glomerulosclerosis. | 1 |
| 36422470 | 2023 | Platelet-Derived Growth Factor B Is a Key Element in the Pathological Bone Formation of Ankylosing Spondylitis. | 4 |
| 37060532 | 2023 | JAM-A Overexpression in Human Umbilical Cord-Derived Mesenchymal Stem Cells Accelerated the Angiogenesis of Diabetic Wound By Enhancing Both Paracrine Function and Survival of Mesenchymal Stem Cells. | 2 |
| 37798786 | 2023 | Preosteoclast plays a pathogenic role in syndesmophyte formation of ankylosing spondylitis through the secreted PDGFB - GRB2/ERK/RUNX2 pathway. | 0 |
| 36351762 | 2023 | The Role of Platelet-Derived Growth Factor in Focal Segmental Glomerulosclerosis. | 1 |
| 36422470 | 2023 | Platelet-Derived Growth Factor B Is a Key Element in the Pathological Bone Formation of Ankylosing Spondylitis. | 4 |
| 37060532 | 2023 | JAM-A Overexpression in Human Umbilical Cord-Derived Mesenchymal Stem Cells Accelerated the Angiogenesis of Diabetic Wound By Enhancing Both Paracrine Function and Survival of Mesenchymal Stem Cells. | 2 |
Citation
Marie-Pierre Simon ; Georges Maire ; Florence Pedeutour
PDGFB platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)
Atlas Genet Cytogenet Oncol Haematol. 2001-02-01
Online version: http://atlasgeneticsoncology.org/gene/155
