title: Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development.
abstract: OBJECTIVE
  The aim of this study is to identify gene targets of TFII-I transcription factors involved in craniofacial development.
  
  
  METHODS
  Recent findings in individuals with Williams-Beuren syndrome who show facial dysmorphism and cognitive defects have pointed to TFII-I genes (GTF2I and GTF2IRD1) as the prime candidates responsible for these clinical features. However, TFII-I proteins are multifunctional transcriptional factors regulating a number of genes during development, and how their haploinsufficiency leads to the Williams-Beuren syndrome phenotype is currently unknown.
  
  
  RESULTS
  Here we report the identification of three genes with a well-established relevance to craniofacial development as direct TFII-I targets. These genes, craniofacial development protein 1 (Cfdp1), Sec23 homolog A (Sec23a), and nuclear receptor binding SET domain protein 1 (Nsd1), contain consensus TFII-I binding sites in their proximal promoters; the chromatin immunoprecipitation analysis showed that TFII-I transcription factors are recruited to these sites in vivo.
  
  
  CONCLUSIONS
  The results suggest that transcriptional regulation of these genes by TFII-I proteins could provide a possible genotype-phenotype link in Williams-Beuren syndrome.
authors.forename: Aleksandr V
authors.initials: AV
authors.lastname: Makeyev
authors.forename: Dashzeveg
authors.initials: D
authors.lastname: Bayarsaihan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics*; D047369:Chromatin Immunoprecipitation; D024202:Electrophoretic Mobility Shift Assay; D047108:Embryonic Development / Q000235:genetics; D016326:Extracellular Matrix Proteins; D020869:Gene Expression Profiling; D011495:Histone-Lysine N-Methyltransferase; D051379:Mice; D046228:Microarray Analysis; D009124:Muscle Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D015534:Trans-Activators / Q000235:genetics; D019473:Transcription Factors, TFII / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; C121022:Cfdp1 protein, mouse; D016326:Extracellular Matrix Proteins; C486330:Gtf2i protein, mouse; C486558:Gtf2ird1 protein, mouse; D009124:Muscle Proteins; D009687:Nuclear Proteins; D011506:Proteins; C079038:Sec23a protein, mouse; D015534:Trans-Activators; D019473:Transcription Factors, TFII; D033921:Vesicular Transport Proteins; D011495:Histone-Lysine N-Methyltransferase; C491867:Nsd1 protein, mouse