Altered development of spinal cord in the mouse mutant (Patch) lacking the PDGF receptor α-subunit gene

Li, Linxi; Schatteman, Gina C.; Oppenheim, Ronald W.; Lei, Ming; Bowen‐Pope, Daniel F.; Houenou, Lucien J.

doi:10.1016/0165-3806(96)00116-2

Cited by 8 publications

(5 citation statements)

References 24 publications

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“…PDGFR-␣ null embryos display a complex phenotype characterized by a cleft face, abnormally patterned somites, subepidermal blistering, spina bifida, skeletal defects, and vascular malformations with hemorrhaging (77). Similar defects have also been reported in mice homozygous for the spontaneous mutation Patch, which is a deletion encompassing the entire PDGFR-␣ locus (78).…”

Section: F Diversity Of Pdgf Functionsmentioning

confidence: 66%

Role of Platelet-Derived Growth Factors in the Testis

et al. 2010

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Normal development and function of the testis are controlled by endocrine and paracrine signaling pathways. Platelet-derived growth factors (PDGFs) are growth factors that mediate epithelial-mesenchymal interactions in various tissues during normal and abnormal processes such as embryo development, wound healing, tissue fibrosis, vascular disorders, and cancer. PDGFs and their receptors (PDGFRs) have emerged as key players in the regulation of embryonic and postnatal development of the male gonad. Cells that express PDGFs and PDGFRs are found in the testis of mammals, birds, and reptiles, and their distribution, regulation, and function vary across species. Testicular PDGFs and PDGFRs appear after the process of sex determination in animals that use either genetic sex determination or environmental sex determination. Sertoli cells are the main PDGF-producing cells during the entire period of prenatal and postnatal testis development. Fetal Leydig cells and their precursors, adult Leydig cells and their stem cell precursors, peritubular myoid cells, cells of the blood vessels, and gonocytes are the testicular cell types expressing PDGFRs. Genetically targeted deletions of PDGFs, PDGFRs, PDGFR target genes or pharmacological silencing of PDGF signaling produce profound damage on the target cells that, depending on the developmental period, are under direct or indirect control of PDGF. PDGF signaling may also serve diverse functions outside of the realm of testis development, including testicular tumors. In this review, we provide a framework of the current knowledge to clarify the useful information regarding how PDGFs function in individual cells of the testis.

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Section: F Diversity Of Pdgf Functionsmentioning

confidence: 66%

Role of Platelet-Derived Growth Factors in the Testis

et al. 2010

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“…From mouse studies it is known that PDGFRA plays an important role in the development of the neural tube. PDGFRA ‐deficient mice are embryonically lethal and show severe spina bifida over the entire spine (Schatteman et al, 1992; Li et al, 1996; Payne et al, 1997; Soriano, 1997). We have previously shown that the human PDGFRA −3600/+118 proximal promoter region contains a total of 10 polymorphic sites that directly affect transcriptional activity (Joosten et al, 2001; Toepoel et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

Interaction of PDGFRA promoter haplotypes and maternal environmental exposures in the risk of spina bifida

Toepoel

Steegers‐Theunissen

Ouborg

et al. 2009

Birth Defects Research

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“…Transcription of the A-chain gene is activated rapidly by a wide range of growth factors, cytokines and other mitogens (5-7), whereas complex cell type-specific patterns of A-chain transcription appear to underlie the regulation of cell proliferation during embryogenesis (8) and cellular differentiation (9). A-chain null mice exhibit abnormalities in early embryonic development and formation of lung alveolar myofibroblasts (10, 11), whereas expression of the A-chain and the PDGF ␣-receptor also appear to critical for development of the cardiovascular and nervous systems in mice (12)(13)(14). PDGF also appears to be critical for placental development, with high expression of A-chain observed in multiple cell types of the placenta including trophoblasts (2, 15), as well as extraembryonic membranes and uterine smooth muscle cells during pregnancy (15, 16).…”

Section: Platelet-derived Growth Factor (Pdgf)mentioning

confidence: 99%

Identification of a Cell Type-specific Enhancer in the Distal 5′-Region of the Platelet-derived Growth Factor A-chain Gene

Maul¹,

Zhang

Reid

et al. 1998

Journal of Biological Chemistry

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Transient transfection analysis of DNA subfragments from the distal 5-flanking region of the human plateletderived growth factor A-chain gene (؊18.3 to ؊1.8 kilobase pairs (kb)) revealed enhancer and silencer elements that contribute significantly to transcriptional regulation. Two adjacent regions (؊8.2 to ؊7.5 kb and ؊7.5 to ؊7.0 kb) enhanced transcription of both A-chain and heterologous thymidine kinase promoters, whereas repression was observed in two other nearby regions (؊9.9 to ؊8.2 kb and ؊7.0 to ؊5.9 kb). The ؊7.5 to ؊7.0-kb fragment, or J, was the strongest enhancer, and its activity was localized to a 66-base pair element (A-chain cell type-specific enhancer (ACE 66)). ACE66 activity was highly cell type-specific, with greatest activity seen in choriocarcinoma cell lines (4 -10-fold enhancement). Progressive 5-and 3-deletions of the ACE66 revealed distribution of activity across the element, with nucleotides 1-33 being critical for function. Electrophoretic mobility shift assays revealed cell type-specific patterns of high affinity protein binding to the element. Ethylation interference footprinting of JEG-3 extract localized guanine contacts on nucleotides 1-18 of both strands of the ACE element, whereas more extensive contacts were made with the phosphate backbone (nucleotides 1-32). The ACE66 element is a potent transcriptional regulator in placental cells and represents a valuable model of long distance regulation in a growth factor gene. Platelet-derived growth factor (PDGF)1 is a potent mitogen and chemoattractant for mesenchymal cells that was first purified from human platelet extracts but later shown to be expressed in a variety of normal and transformed cell types (1, 2). PDGF is a family of dimeric glycoproteins that arise from different combinations of two polypeptide chains, termed A and B, that are encoded by separate genes located on different chromosomes. The human A-chain gene contains 7 exons and is located on chromosome 7 (7pter-7q22), spanning approximately 24 kb (3, 4). Transcription of the A-chain gene is activated rapidly by a wide range of growth factors, cytokines and other mitogens (5-7), whereas complex cell type-specific patterns of A-chain transcription appear to underlie the regulation of cell proliferation during embryogenesis (8) and cellular differentiation (9). A-chain null mice exhibit abnormalities in early embryonic development and formation of lung alveolar myofibroblasts (10, 11), whereas expression of the A-chain and the PDGF ␣-receptor also appear to critical for development of the cardiovascular and nervous systems in mice (12)(13)(14). PDGF also appears to be critical for placental development, with high expression of A-chain observed in multiple cell types of the placenta including trophoblasts (2, 15), as well as extraembryonic membranes and uterine smooth muscle cells during pregnancy (15, 16). Inappropriate expression of the PDGF genes has also been implicated in many disease states involving abnormal cell proliferation, including atherosclerosis, pulmon...

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Altered development of spinal cord in the mouse mutant (Patch) lacking the PDGF receptor α-subunit gene

Cited by 8 publications

References 24 publications

Role of Platelet-Derived Growth Factors in the Testis

Role of Platelet-Derived Growth Factors in the Testis

Interaction of PDGFRA promoter haplotypes and maternal environmental exposures in the risk of spina bifida

Identification of a Cell Type-specific Enhancer in the Distal 5′-Region of the Platelet-derived Growth Factor A-chain Gene

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