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...

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Bibliographic Details
Published in:Human molecular genetics 2004-10, Vol.13 (suppl-2), p.R235-R243
Main Authors: Amiel, Jeanne, Trochet, Delphine, Clément-Ziza, Mathieu, Munnich, Arnold, Lyonnet, Stanislas
Format: Article
Language:English
Subjects:
Animals
Biological and medical sciences
Congenital Abnormalities - genetics
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Heredodegenerative Disorders, Nervous System - genetics
Humans
Molecular and cellular biology
Peptides - genetics
Trinucleotide Repeat Expansion
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Summary: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.
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/ddh251