A major rationale for genome sequencing is the promise of understanding human disorders, as articles in Genome Research often remind us. This month, in a report on recent progress in mental retardation (MR) research, Jozef Gécz and John Mulley (University of Adelaide) explain how advances in human genome sequencing have helped uncover genes involved in MR.
Mental retardation, defined as IQ under 70, affects two to three percent of the population, either as part of a complex syndrome (e.g., Down syndrome) or by itself (non-specific MR). Many different gene defects can cause non-specific MR, including a variety of mutations on the X chromosome that mostly affect males. Because sufferers with different mutations can have similar symptoms, pinpointing individual genes for MR is difficult. In this review, Gécz and Mulley describe how sequence data and resources derived from the Human Genome Project have come together with traditional genetic studies to jumpstart research on non-specific mental retardation. <P> As a result, scientists have recently identified seven X-linked genes whose mutations cause non-specific MR, among an estimated 20-100 such genes on the X chromosome and possibly hundreds altogether on the human genome. Interestingly, most of the identified genes participate in intracellular signaling and are highly active in the hippocampus, a brain region involved in human memory. With the advent of new genomic technologies such as DNA arrays, say Gécz and Mulley, we might realistically hope to identify all genes involved in mental retardation. Such an achievement would illuminate not only the causes of mental retardation but also the workings of the healthy human brain. <P> <CENTER>###</CENTER> <P> Contact (author):<BR> Jozef Gécz<br> Department of Pediatrics<br> University of Adelaide<br> Adelaide, Australia<br> Email: <A HREF="mailto:jgecz@mad.adelaide.edu.au">jgecz@mad.adelaide.edu.au</a><P> <hr class="hidden-xs hidden-sm" /> <hr class="major visible-sm" /> <div class="featured_image"> <div class="details"> <div class="well"> <h4>Journal</h4> <p>Genome Research</p> </div> </div> </div> </div> <div class="well article_disclaimer hidden-search"> <p><strong>Disclaimer:</strong> AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.</p> </div> <div class="toolbar hidden-print hidden-search"> <div class='col-xs-6'> <div class="addthis_inline_share_toolbox_pnaa"></div> </div> <div class='col-xs-6'> <div class="article-tools pull-right"> <div class="addthis_inline_share_toolbox_62ef"></div> </div> </div> </div> </article> </div> <aside id="sidebar-content" class="white col-md-4"> <hr class="hidden-xs hidden-sm"> <hr class="major visible-xs visible-sm"> <section class="widget hidden-print"> <h3 class="widget-title red">More on this News Release</h3> <div class="widget-content"> <aside class="more"> <a href="/news-releases/1023833"> <h3>Progress in mental retardation research</h3> </a> <p class="meta_institute">Cold Spring Harbor Laboratory</p> <dl class="dl-horizontal meta stacked"> <dt class="yellow">Journal</dt> <dd class="yellow"><em>Genome Research</em></dd> </dl> </aside> <div class="row"> <div class="col-sm-6 col-md-12"> <h4 class="widget-subtitle">Keywords</h4> <nav class="tag-cloud"> <ul class="tags"> <li class="active ea-keyword"> <a href="#"> <span class="ea-keyword__path">/Life sciences/Neuroscience/Developmental neuroscience/Cognitive development/</span><span class="ea-keyword__short">Intellectual disabilities</span> </a> </li> <li class="ea-keyword"> <a href="#"> <span class="ea-keyword__path">/Life sciences/Genetics/Genomics/Genomes/Eukaryotic genomes/Mammal genomes/</span><span class="ea-keyword__short">Human genomes</span> </a> </li> <li class="ea-keyword"> <a href="#"> <span class="ea-keyword__path"> /Life sciences/Genetics/Genetic methods/</span><span class="ea-keyword__short">Gene identification</span> </a> </li> </ul> </nav> </div> </div> </div> </section> </aside> </div> </div> </div> <footer id="footer" class="hidden-print hidden-search"> <div class="container"> <div class="row"> <div class="col-sm-5 col-sm-push-7"> <p class="logo"> <img src="/images/logo-footer.png" alt="EurekAlert! 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