Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes |
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| Authors: | X. Meng Xiaojun Lu Zhizhong Li Eric D. Green Hillary Massa Barbara J. Trask Colleen A. Morris Mark T. Keating |
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| Affiliation: | (1) Howard Hughes Medical Institute, University of Utah, Salt Lake City, UT 84112, USA, US;(2) Howard Hughes Medical Institute, Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA e-mail: mark@howard.genetics.utah.edu, Tel.: +1 801 581 8904, Fax:+1 801 585 7423, US;(3) Cardiology Division, University of Utah, Salt Lake City, UT 84112, USA, US;(4) Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA, US;(5) Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA, US;(6) Department of Molecular Biotechnology, Box 357730, University of Washington, Seattle, WA 98195, USA, US;(7) Department of Pediatrics, Genetics Division, University of Nevada School of Medicine, Las Vegas, NV 89102, USA, US |
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| Abstract: | Williams syndrome (WS) is a contiguous gene deletion disorder caused by haploinsufficiency of genes at 7q11.23 . We have shown that hemizygosity of elastin is responsible for one feature of WS, supravalvular aortic stenosis (SVAS). We have also implicated LIM-kinase 1 hemizygosity as a contributing factor to impaired visual-spatial constructive cognition in WS. However, the common WS deletion region has not been completely characterized, and genes for additional features of WS, including mental retardation, infantile hypercalcemia, and unique personality profile, are yet to be discovered. Here, we present a physical map encompassing 1.5 Mb DNA that is commonly deleted in individuals with WS. Fluorescence in situ hybridization analysis of 200 WS individuals shows that WS individuals have the consistent deletion interval. In addition, we identify three novel genes from the common deletion region: WS-βTRP, WS-bHLH, and BCL7B. WS-βTRP has four putative β-transducin (WD40) repeats, and WS-bHLH is a novel basic helix-loop-helix leucine zipper (bHLHZip) gene. BCL7B belongs to a novel family of highly conserved genes. We describe the expression profile and genomic structure for each of these genes. Hemizygous deletion of one or more of these genes may contribute to developmental defects in WS. Received: 29 June 1998 / Accepted: 3 September 1998 |
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