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Human Molecular Genetics 2004 13(Review Issue 2):R235-R243; doi:10.1093/hmg/ddh251
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Human Molecular Genetics, Vol. 13, Review Issue 2 © Oxford University Press 2004; all rights reserved

Polyalanine expansions in human

Jeanne Amiel*, Delphine Trochet, Mathieu Clément-Ziza, Arnold Munnich and Stanislas Lyonnet

Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France

Received June 28, 2004; Revised July 15, 2004; Accepted July 23, 2004

Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in congenital malformations, skeletal dysplasia and nervous system anomalies. Polyalanine stretches have been predicted in roughly 500 human proteins among which nine have been ascribed to disease phenotype by expansion of polyalanines. The function of polyalanine stretches is largely unknown. This paper aims to review the rapidly growing evidences for a disease-causing mechanism common to expansion of homopolymeric tracts whatever the amino acid involved is.

* To whom correspondence should be addressed at: Département de Génétique, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris 15, France. Tel: +33 144495136; Fax: +33 144495150; Email: amiel{at}necker.fr


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