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Williams Syndrome
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Williams Syndrome - Home
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Experiment Proposal and Future Directions. This page was produced as an assignment for Genetics 677. What is Williams Syndrome? Williams Syndrome (also referred to as Williams Beuren Syndrome) is a genetic disorder caused by spontaneous deletions of 1.5 Mb on human chromosome 7q11.23, as depicted in figure 1. This region is compromised of 25 genes that encode transcriptional regulators, signaling molecules ( LIMK1. Williams Syndrome affects approximately 1 in 10,000 individuals worldwide (2). Williams Sy...
Microarray - Williams Syndrome
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Experiment Proposal and Future Directions. This page was produced as an assignment for Genetics 677. Microarrays and Williams Syndrome. I propose using microarrays to analyze what happens to expression of the interacting proteins with LIMK1 when it is knocked out. To read my proposal, visit Experiment Proposal and Future Directions. Last updated by Natalie DeCheck on May 22, 2012. Create a free website. Create your own free website. Start your own free website.
Motifs and Domains - Williams Syndrome
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Experiment Proposal and Future Directions. This page was produced as an assignment for Genetics 677. LIMK1 is 647 amino acids long and has 4 domains: two LIM domains (AA 25-80. 82-142), a PDZ domain (AA 165-255), a low complexity region (AA 302-313), and a protein tyrosine kinase domain (AA 339-604) ( PFAM). Fig 1 Domains of LIMK1. Image created using PROSITE. The LIM domain contains two zinc finger domains separated by a hydrophobic linker. LIM domains mediate vital cellular processes via protein-pr...
Protein Interactions - Williams Syndrome
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Experiment Proposal and Future Directions. LIMK1 has the highest levels of expression in both the adult and fetal nervous system, with lower levels of expression in the heart and skeletal muscle (Uniprot). In Fig 1, the STRING network, or protein-protein interactions between LIMK1 and other proteins, is depicted. LIMK1 is a serine/threonine protein kinase and acts downstream of serveral Rho familiy GTPase signal transduction pathways (1). It is activated by upstream kinases. Many of these interactions ar...
Intragenic Deletion - Williams Syndrome
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Experiment Proposal and Future Directions. This page was produced as an assignment for Genetics 677. Intragenic deletion of LIMK1 in mice. LIMK1 can be knocked out in mice to create a partial Williams Syndrome phenotype. Figure 2. Creating a vector (2). Figure 1. Creating a transgenic mouse (2. The phenotype seen in knockout LIMK1 mice is shown below:. Figure 3. Knockout LIMK1 mouse phenotype. Http:/ www.informatics.jax.org/javawi2/servlet/WIFetch? Last updated by Natalie DeCheck on May 22, 2012.
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Williams Syndrome - Home
Experiment Proposal and Future Directions. This page was produced as an assignment for Genetics 677. What is Williams Syndrome? Williams Syndrome (also referred to as Williams Beuren Syndrome) is a genetic disorder caused by spontaneous deletions of 1.5 Mb on human chromosome 7q11.23, as depicted in figure 1. This region is compromised of 25 genes that encode transcriptional regulators, signaling molecules ( LIMK1. Williams Syndrome affects approximately 1 in 10,000 individuals worldwide (2). Williams Sy...
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