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Volume 25, Issue 24
15 December 2016
ISSN 0964-6906
EISSN 1460-2083
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    Cover Image

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    Cover: Schematic model showing the molecular basis of Bowen-Conradi syndrome, which is caused by a point mutation (D86G) in the ribosomal RNA methyltransferase EMG1. The Importin β/7 dimer binds to EMG1 in the cytoplasm and acts as a chaperone during its nuclear import. EMG1 is then recruited to the nucleolus by NOP14, NOC4L and UTP14A, whereas in Bowen-Conradi syndrome, EMG1D86G is chaperoned into the nucleus, but accumulates in nuclear speckles leading to its proteasome-dependent degradation. Only a fraction of EMG1D86G can be recruited to the nucleolus and the decreased pre-ribosomal levels of EMG1D86G lead to defects in small ribosomal subunit maturation.

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