Journal Article

Polyalanine expansions in human

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

in Human Molecular Genetics

Volume 13, issue suppl_2, pages R235-R243
Published in print October 2004 | ISSN: 0964-6906
Published online October 2004 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddh251
Polyalanine expansions in human

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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.

Journal Article.  6596 words.  Illustrated.

Subjects: Genetics and Genomics

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