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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>Tuberous sclerosis complex in flies too? - Coffee Break - NCBI Bookshelf</title>
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<meta name="citation_inbook_title" content="Coffee Break: Tutorials for NCBI Tools [Internet]">
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<meta name="citation_title" content="Tuberous sclerosis complex in flies too?">
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<meta name="citation_date" content="2000/07/27">
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<meta name="citation_author" content="Laura Dean">
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<meta name="citation_author" content="Johanna McEntyre">
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title="Dismiss find">✘</a></nav><nav id="jr-fip-info-p"><a id="jr-fip-prev" class="wsprkl btn" title="Jump to previuos match">◀</a><button id="jr-fip-matches">no matches yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK2317_"><span class="title" itemprop="name">Tuberous sclerosis complex in flies too?</span></h1><div class="subtitle">a fly homolog to TSC2, called gigas, plays a role in cell cycle regulation</div><p class="fm-aai"><a href="#_NBK2317_pubdet_">Publication Details</a></p></div></div><div class="body-content whole_rhythm" itemprop="text"><p>Tuberous sclerosis complex (TSC) affects as many as 1 in 6000 newborns. Although named in 1880 for the firm, potato-like nodules that form in the cerebral cortex, few organs escape the benign tumors called hamartomas that also sprout in the kidneys, lungs, heart, eyes, and skin. The first clinical signs of TSC include seizures, mental retardation, and skin lesions. However, symptoms can be so subtle that they go undetected for many years.</p><p>One-third of TSC patients inherit a defective copy of either the <i>TSC1</i> gene (chromosome 9q34) or the <i>TSC2</i> gene (chromosome 16p13.3). The remaining two-thirds acquire the disease by spontaneous mutation of either gene, probably very early in embryonic development. Because no individual lacking functional copies of both genes has ever been found, it is believed that such a condition is lethal to the embryo.</p><div class="iconblock whole_rhythm clearfix ten_col fig" id="figA554" co-legend-rid="figlgndA554"><a href="/books/NBK2317/figure/A554/?report=objectonly" target="object" title="Figure" class="img_link icnblk_img figpopup" rid-figpopup="figA554" rid-ob="figobA554"><img class="small-thumb" src="/books/NBK2317/bin/cb15_big.gif" src-large="/books/NBK2317/bin/cb15_big.jpg" alt="In Drosophila, the gigas gene codes for a protein homologous to human TSC2." /></a><div class="icnblk_cntnt" id="figlgndA554"><h4 id="A554"><a href="/books/NBK2317/figure/A554/?report=objectonly" target="object" rid-ob="figobA554">Figure</a></h4><p class="float-caption no_bottom_margin">In <i>Drosophila</i>, the <i>gigas</i> gene codes for a protein homologous to human <i>TSC2</i>. Fly cells from the wing and eye imaginal discs that contain mutant <i>gigas</i> are enlarged, suggesting that the cells failed to undergo cell division at the appropriate time. The <a href="/books/NBK2317/figure/A554/?report=objectonly" target="object" rid-ob="figobA554">(more...)</a></p></div></div><p>The product of the <i>TSC1</i> gene, hamartin, shows no overall sequence similarity to any known protein, although it contains an extensive coiled-coil region near its carboxyl end. Coiled-coil domains often provide a binding surface for protein-protein interactions. The TSC2 product, tuberin, is also novel but shows homology to the GTPase-activating protein (GAP) for Rap1 protein, a Ras superfamily member. Rap1's cellular function is not known, however, many Ras-related proteins help to pass stimulatory signals, from the plasma membrane to the nucleus, that tell a cell when to divide. The GTP-dependent proteins within these signaling cascades can only transmit a signal when in a GTP-bound state. The role of the GAP is to inactivate the signaling protein by hydrolyzing its bound GTP to GDP. GAPs are therefore critical negative regulators of the Ras-like proteins and thus prevent cells from dividing unchecked.</p><p>The discovery last year of <i>TSC1</i> and <i>TSC2</i> homologs in <i>Drosophila</i> strengthens the idea that they are fundamental to cell division control. Mutant flies lacking tuberin possess enlarged cells that contain on average ten times the normal amount of DNA, indicating that the cells repeatedly replicated their DNA without going through intervening cell divisions. A similar process may explain the giant, multinucleated cells seen in certain neuronal tumors of TSC patients. In addition, experiments in human cells have shown that when tuberin protein levels are reduced, the cells prematurely enter the cell division cycle.</p><p>What about hamartin? It may be telling that TSC1 patients are clinically indistinguishable from TSC2 patients. One idea is that tuberin and hamartin bind to each other in cells, facilitated by hamartin's coiled-coil domain. Perhaps hamartin is there to keep tuberin fully active, or the tuberin-hamartin complex itself is the functional tumor suppressor. Although the precise cellular actions of tuberin and hamartin remain to be discovered, the strongly homologous proteins found in <i>Drosophila</i> offer the potential for further experimental investigation.
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</p><div id="A338" class="box boxed-text-box whole_rhythm hide-overflow"><h3><span class="title">Search PubMed for the outcomes of surgery</span></h3><p>Created: July 27, 2000</p><p>Click on the link below to start an html tutorial.</p><p>Outcomes of surgery for TSC</p></div><p>
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</p><div id="A339" class="box boxed-text-box whole_rhythm hide-overflow"><h3><span class="title">Use BLAST to search for proteins similar to human TSC2</span></h3><p>Created: July 27, 2000</p><p>Click on the link below to start an html tutorial.</p><p>Search for proteins similar to human TSC2</p></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK2317_pubdet_">Publication Details</h2><h3>Publication History</h3><p class="small">Created: <span itemprop="datePublished">July 27, 2000</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright Notice</a></div></div><h3>Publisher</h3><p><a href="http://www.ncbi.nlm.nih.gov/" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">National Center for Biotechnology Information (US)</a>, Bethesda (MD)</p><h3>NLM Citation</h3><p>Dean L, McEntyre J, editors. Coffee Break: Tutorials for NCBI Tools [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1999-. Tuberous sclerosis complex in flies too?a fly homolog to TSC2, called gigas, plays a role in cell cycle regulation. 2000 Jul 27.<span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/coffeebrk/A26/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/coffeebrk/A24/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="fig" id="figobA554"><div id="A554" class="figure bk_fig"><div class="graphic"><img data-src="/books/NBK2317/bin/cb15_big.jpg" alt="In Drosophila, the gigas gene codes for a protein homologous to human TSC2." /></div><h3><span class="title">In <i>Drosophila</i>, the <i>gigas</i> gene codes for a protein homologous to human <i>TSC2</i></span></h3><div class="caption"><p><br />Fly cells from the wing and eye imaginal discs that contain mutant <i>gigas</i> are enlarged, suggesting that the cells failed to undergo cell division at the appropriate time. The figure shows confocal images of DNA-stained (green; DAPI) and phalloidin-stained (red — phalloidin is a toxin that tightly binds actin) wild-type (left-most two columns) and mutant (right-most two columns) cells. <b>(A-D)</b> are wing disc cells, <b>(E-H)</b> are cells from the eye disc anterior to the morphogenetic furrow (MF), while <b>(I-L)</b> are from the eye disc posterior to the MF. The red actin stain shows that the size of the whole cell increases in mutant cells, while the green DNA stain shows that the size of the nucleus also increases in mutant cells.
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</p></div></div></article><article data-type="boxed-text" id="figobA338"><div id="A338" class="box boxed-text-box whole_rhythm hide-overflow"><h3><span class="title">Search PubMed for the outcomes of surgery</span></h3><p>Created: July 27, 2000</p><p>Click on the link below to start an html tutorial.</p><p>Outcomes of surgery for TSC</p></div></article><article data-type="boxed-text" id="figobA339"><div id="A339" class="box boxed-text-box whole_rhythm hide-overflow"><h3><span class="title">Use BLAST to search for proteins similar to human TSC2</span></h3><p>Created: July 27, 2000</p><p>Click on the link below to start an html tutorial.</p><p>Search for proteins similar to human TSC2</p></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script></div></div>
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