HOUSTON - (Oct. 2, 2011) When cells divide normally, DNA gets copied perfectly and distributed among the daughter cells with an even hand. Occasionally though, DNA breaks during division and is rearranged, resulting in duplications or deletions of important parts of the blueprint.
Now researchers at Baylor College of Medicine who study families with such genomic disorders have found a shared, yet unusual, architecture resulting from this jumble that is associated with very severe forms of disease. They also identified the genomic elements that produce such architecture, a finding that will help predict other unstable regions in the human genome.
The unusual architecture left a footprint, and a search for similar footprints in other regions of the genome may identify regions that underwent the same alteration during the evolutionary past. This event might occur more often than previously expected. A report on their work appears online in the current issue of Nature Genetics.
The rearrangement structure triplicated genetic material inverted and embedded within duplications of genetic material appeared in 20 percent of patients who had been diagnosed with MECP2 duplication syndrome, said first author Dr. Claudia Carvalho, a postdoctoral associate in the laboratory of Dr. James Lupski, vice chair of the department of molecular and human genetics at BCM and corresponding author of the report.
A mutation in MECP2 was first identified in association with Rett syndrome by the laboratory of Dr. Huda Zoghbi at BCM. In Rett syndrome, the protein associated with the gene has minimal or no activity and the disorder mainly affects girls. Later studies showed that too much MeCP2 protein because of increased MECP2 gene do
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Baylor College of Medicine