ArticleEuropean journal of human genetics : EJHG2009
The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 57 citations in OpenAlex.
- Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort.Journal of human genetics · 2026Article
- PDGFRα signaling regulates Srsf3 transcript binding to affect PI3K signaling and endosomal trafficking.eLife · 2024Article
- PDGFRα signaling regulates Srsf3 transcript binding to affect PI3K signaling and endosomal trafficking.bioRxiv : the preprint server for biology · 2024Article
- [Association between platelet-derived growth factor-C single nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate in Western Chinese population].Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2020Article
- Development and gene expression of C57BL/6 mouse embryo palate shelves in rotary organ culture.Experimental and therapeutic medicine · 2020Article
- Article
- PDGFRβ regulates craniofacial development through homodimers and functional heterodimers with PDGFRα.Genes & development · 2016Article
- Pharmacological targeting of the PDGF-CC signaling pathway for blood-brain barrier restoration in neurological disorders.Pharmacology & therapeutics · 2016Review
- Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing.Medicina oral, patologia oral y cirugia bucal · 2015Article
- The receptor tyrosine kinase Pvr promotes tissue closure by coordinating corpse removal and epidermal zippering.Development (Cambridge, England) · 2015Article
- Molecular basis of cleft palates in mice.World journal of biological chemistry · 2015Review
- Article
- BMP7 Gene involved in nonsyndromic orofacial clefts in Western Han Chinese.Medicina oral, patologia oral y cirugia bucal · 2015Article
- Palatogenesis and cutaneous repair: A two-headed coin.Developmental dynamics : an official publication of the American Association of Anatomists · 2015Review
- CARFMAP: A Curated Pathway Map of Cardiac Fibroblasts.PloS one · 2015Article
- SRF regulates craniofacial development through selective recruitment of MRTF cofactors by PDGF signaling.Developmental cell · 2014Article
- Implications of genomic signatures in the differential vulnerability to fetal alcohol exposure in C57BL/6 and DBA/2 mice.Frontiers in genetics · 2014Article
- Platelet-derived growth factor C deficiency in C57BL/6 mice leads to abnormal cerebral vascularization, loss of neuroependymal integrity, and ventricular abnormalities.The American journal of pathology · 2012Article
- Developmental epigenetics of the murine secondary palate.ILAR journal · 2012Review
- Maternal transmission effect of a PDGF-C SNP on nonsyndromic cleft lip with or without palate from a Chinese population.PloS one · 2012Article
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 3 countries.
Funding
Abstract
Human linkage and association studies suggest a gene(s) for nonsyndromic cleft lip with or without cleft palate (CL/P) on chromosome 4q31-q32 at or near the platelet-derived growth factor-C (PDGF-C) locus. The mouse Pdgfc(-/-) knockout shows that PDGF-C is essential for palatogenesis. To evaluate the role of PDGF-C in human clefting, we performed sequence analysis and SNP genotyping using 1048 multiplex CL/P families and 1000 case-control samples from multiple geographic origins. No coding region mutations were identified, but a novel -986 C>T SNP (rs28999109) was significantly associated with CL/P (P=0.01) in cases from Chinese families yielding evidence of linkage to 4q31-q32. Significant or near-significant association was also seen for this and several other PDGF-C SNPs in families from the United States, Spain, India, Turkey, China, and Colombia, whereas no association was seen in families from the Philippines, and Guatemala, and case-controls from Brazil. The -986T allele abolished six overlapping potential transcription regulatory motifs. Transfection assays of PDGF-C promoter reporter constructs show that the -986T allele is associated with a significant decrease (up to 80%) of PDGF-C gene promoter activity. This functional polymorphism acting on a susceptible genetic background may represent a component of human CL/P etiology.
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