A new kind of mutation could explain numerous phenotypic variations in various speciesJune 06, 2006The authors describe the discovery of a novel class of mutations that disrupt the function of a gene and thereby cause a specific phenotype. The mutation created the appearance of an "illegitimate" microRNA (miRNA) recognition site in a gene that did not have it in its normal form. In this study, the gene concerned is the myostatin. This gene is expressed in the skeletal muscle and the function of the derived protein is to inhibit muscular growth. The mutation discovered among sheep exposed a recognition site for two miRNAs that are highly expressed in the muscle. In "mutant" animals, these miRNAs will consequently target the myostatin gene and block its translation. The result is that the absence of myostatin provokes a muscular hypertrophy among Texel sheep. A mechanism observed in other species as well However, Michel Georges' team investigated further. Pursuing the study using bioinformatic approaches, the team identified polymorphisms (common mutations) among humans and mice that are likely to act in the same way as they do in the Texel breed. It appears, therefore, that this new kind of mutation, discovered while studying sheep, could contribute significantly to the phenotypic variation observed in many species — among which humans — including the hereditary predisposition to various diseases. Researchers at ULg have thus produced a database available online that compiles all these mutations (the Patrocles database: http://www.patrocles.org). It will assist researchers around the world in discovering similar phenomena for other phenotypes including hereditary diseases. University of Liege |
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| Related Phenotypic Variation Current Events and Phenotypic Variation News Articles A Genome May Reduce Your Carbon Footprint With the costs of genome sequencing rapidly decreasing, and with the infrastructure now developed for almost anyone with access to a computer to cheaply store, access, and analyze sequence information, emphasis is increasingly being placed on ways to apply genome data to real world problems, including reducing dependency on fossil fuel. Left main coronary artery disease can double or treble heart risk in siblings German researchers have found that heart disease of the left main coronary artery is often an inherited condition that clusters in families. Moreover, they discovered that initially healthy siblings of a person with the condition were 2.5 times more likely to go on to develop some form of heart disease than were siblings of a patient with heart disease that did not relate to the left main coronary artery. New technology used to construct the first map of structural variation in the human genome Beyond the simple stream of one-letter characters in the human genome sequence lies a complex, higher-order code. In order to decipher this level of architecture, scientists have developed powerful new experimental and algorithmic methods to detect copy number variants (CNVs)-defined as large deletions and duplications of DNA segments. Chimpanzee study reveals genome variation hotspots Researchers believe that dynamic regions of the human genome - "hotspots" in terms of duplications and deletions - are potentially involved in the rapid evolution of morphological and behavioral characteristics that are genetically determined. Environmental triggers may promote human genetic variation In this month's issue of the leading scientific journal Genome Research, scientists from Kyushu University report how environmentally damaged DNA may contribute to human genetic diversity. More Phenotypic Variation Current Events and Phenotypic Variation News Articles |
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