Molecular Genetics of Williams Syndrome: Windows into Human Biology
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Cedars-Sinai Medical Center at UCLA, Departments of Pediatrics and Medical Genetics Institute, United States
Genetics is my favorite way of thinking: Williams syndrome seen through the eyes of a geneticist. Williams syndrome (WS) is the most compelling model in which to link the basis of human emotion and behavior to their biological origins. The explanatory power of human genetics in WS rests on the recent revolution in understanding the human genome but more specifically on the ability to link genetic with behavioral variation at high resolution. WS is due to the deletion of about 25 genes located in a stretch of genomic DNA located on chromosome 7q11.23. Further understanding of which genes may contribute to specific features of WS makes use of rare individuals with smaller deletions, of variation in gene expression remaining on the nondeleted chromosome 7, and of further study of the expression of WS region genes in nonhuman primate brain. The goal of this presentation is to describe some of these genetic mechanisms that appear to contribute to the features of Williams syndrome and to suggest how to use this information may inform brain development and adult function.
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:
Korenberg
J
(2009). Molecular Genetics of Williams Syndrome: Windows into Human Biology.
Conference Abstract:
12th International Professional Conference on Williams Syndrome.
doi: 10.3389/conf.neuro.09.2009.07.001
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Received:
28 Apr 2009;
Published Online:
28 Apr 2009.
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Correspondence:
Julie Korenberg, Cedars-Sinai Medical Center at UCLA, Departments of Pediatrics and Medical Genetics Institute, Los Angeles, United States, USA.julie.korenberg@hsc.utah.edu