description): The goal of this work is to identify dosage sensitive genes responsible for the Williams syndrome phenotype and to understand their function and regulation. In addition, the mechanisms leading to the high frequency of sporadic deletion formation will be examined. A variety of genetic techniques will be employed to identify, characterize, and correlate genes in the deleted region.
| Franke, Y; Peoples, R J; Francke, U (1999) Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet Cell Genet 86:296-304 |
| Paperna, T; Peoples, R; Wang, Y K et al. (1998) Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion. Genomics 54:453-9 |
| Peoples, R J; Cisco, M J; Kaplan, P et al. (1998) Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet Cell Genet 82:238-46 |
