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