Tuesday, May 26, 2015

Drosophila study related to Renpenning syndrome

Wan D, Zhang ZC, Zhang X, Li Q, Han J. X-chromosome-linked intellectual disability protein PQBP1 associates with and regulates the translation of specific mRNAs. Hum Mol Genet. 2015 May 22. pii: ddv191. PMID: 26002102.

From the abstract: "X-chromosome-linked intellectual disability (XLID) is a common developmental disorder, and mutations of the polyglutamine-binding protein 1 (PQBP1) gene have been linked to this disease. ... Here, we show that the Drosophila homolog of PQBP1 (dPQBP1) is present in the cytoplasm of photoreceptor cells, and its loss results in defective rhabdomere morphogenesis ... also show that dPQBP1 regulates mRNA translation by interacting with dFMR1 ... Our findings reveal the conserved function of PQBP1 in mRNA translation and provide molecular insights into the pathogenic mechanisms underlying Renpenning syndrome."

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