Shortened Fingers (IMAGE)
Caption
The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short fingers). Three years ago Dr. Philipp G. Maass from the Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité and the Max Delbrück Center (MDC) in Berlin, has discovered an epigenetic mechanism, which, when dysregulated, causes this condition. Now, he and Dr. Sylvia Bähring were able to show how this regulator functions and influences the development of the bones and shed light on a new principle of gene regulation. The hand on the left X-ray is normal. The hand to the right shows shortened single bones in the fingers of a patient with brachydaktyly type E (see arrows). The shortened extremity is due to the translocation of the gene PTHLH from chromosome 12 to chromosome 4 followed by dysregulation of the gene PTHLH. The researchers in Berlin showed that the gene`s regulator CISTR-ACT not only functions as a DNA-regulator, but also encodes a long non-coding RNA (lncRNA). The regulator CISTR-ACT with its long non-coding RNA (lncRNA) was disrupted by the translocation and supported the dysregulation. Recently, researchers have begun looking at these lncRNA, because they appear to play an important role in organ development. Contrary to protein-coding genes these lncRNA do not produce proteins but instead serve their function in an epigenetic fashion. lncRNAs are distinguished by their length (greater than 200 nucleotides).
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Graphics and X-rays: Philipp Maass/Copyright: ECRC
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