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Translation of Expanded CGG Repeats Into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Translation of Expanded CGG Repeats Into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Chantal Sellier, Ronald A M Buijsen, Fang He, Sam Natla, Laura Jung, Philippe Tropel, Angeline Gaucherot, Hugues Jacobs, Hamid Meziane, Alexandre Vincent, Marie-France Champy, Tania Sorg, Guillaume Pavlovic, etc.

Neuron. 2017 Jan 18;93(2):331-347.

PMID: 28065649

Abstract:

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a limited expansion of CGG repeats in the 5' UTR of FMR1. Two mechanisms are proposed to cause FXTAS: RNA gain-of-function, where CGG RNA sequesters specific proteins, and translation of CGG repeats into a polyglycine-containing protein, FMRpolyG. Here we developed transgenic mice expressing CGG repeat RNA with or without FMRpolyG. Expression of FMRpolyG is pathogenic, while the sole expression of CGG RNA is not. FMRpolyG interacts with the nuclear lamina protein LAP2β and disorganizes the nuclear lamina architecture in neurons differentiated from FXTAS iPS cells. Finally, expression of LAP2β rescues neuronal death induced by FMRpolyG. Overall, these results suggest that translation of expanded CGG repeats into FMRpolyG alters nuclear lamina architecture and drives pathogenesis in FXTAS.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
AP25718949	Polyglycine		25718-94-9	Price

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