Function of TFII-I Family Factors,Involved in Williams-Bueren Syndrome
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1
Tufts University School of Medicine, Department of Pathology, United States
Williams-Beuren Syndrome (WBS) is a rare developmental disorder that is caused by a hemizygous microdeletion of approximately 1.5 MB, spanning 17 genes at chromosomal location 7q11.23. However, we lack a complete understanding of molecular basis for WBS. Although this multisystem dysfunction with unusual craniofacial, behavioral and cognitive features occurs most likely due to haplo-insufficiency of several genes, rare cases with much smaller deletions have provided clues to identifying specific genes that may be causal to distinctive physical and cognitive defects. Two of these genes, GTF2I and GTF3 encode the TFII-I family of transcription factors. TFII-I and its relative MusTRD1/BEN exhibit extensive and overlapping expression patterns in a variety of tissues during mouse pre- and postimplantation development, suggesting a functional role for these proteins in early development. These data strongly implicate TFII-I family proteins are causal to the craniofacial defects observed in WBS patients. To begin to understand the molecular basis for the craniofacial traits associated with WBS, it is thus imperative to elucidate the functional role of transcription factors TFII-I and BEN in cell culture and animal models. Here we discuss the biochemical properties of TFII-I and BEN and identify a host of target genes that can lead to elucidation of pathways important for the pathology of WBS.
Conference:
12th International Professional Conference on Williams Syndrome, Garden Grove,CA, United States, 13 Jul - 14 Jul, 2008.
Presentation Type:
Oral Presentation
Topic:
SESSION 1: Genetics and Genotype- Phenotype Correlations
Citation:
Roy
A
(2009). Function of TFII-I Family Factors,Involved in Williams-Bueren Syndrome.
Conference Abstract:
12th International Professional Conference on Williams Syndrome.
doi: 10.3389/conf.neuro.09.2009.07.002
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Received:
28 Apr 2009;
Published Online:
28 Apr 2009.
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Correspondence:
Ananda Roy, Tufts University School of Medicine, Department of Pathology, Boston, United States, USA.ananda.roy@tufts.edu