title: Polyalanine expansions in human.
abstract: 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.
authors.affiliation: Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France. amiel@necker.fr
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
authors.forename: Delphine
authors.initials: D
authors.lastname: Trochet
authors.forename: Mathieu
authors.initials: M
authors.lastname: Clément-Ziza
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
mesh_terms: D000818:Animals; D000013:Congenital Abnormalities / Q000235:genetics*; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics*; D006801:Humans; D010455:Peptides / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
chemical_list: D010455:Peptides; C019529:polyalanine