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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Lemmers, Richard J.L.F ; van der Vliet, Patrick J ; Klooster, Rinse ; Sacconi, Sabrina ; Camaño, Pilar ; Dauwerse, Johannes G ; Snider, Lauren ; Straasheijm, Kirsten R ; Jan van Ommen, Gert ; Padberg, George W ; Miller, Daniel G ; Tapscott, Stephen J ; Tawil, Rabi ; Frants, Rune R ; van der Maarel, Silvère M

Science (American Association for the Advancement of Science), 2010-09, Vol.329 (5999), p.1650-1653 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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Título:
Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Autor: Lemmers, Richard J.L.F ; van der Vliet, Patrick J ; Klooster, Rinse ; Sacconi, Sabrina ; Camaño, Pilar ; Dauwerse, Johannes G ; Snider, Lauren ; Straasheijm, Kirsten R ; Jan van Ommen, Gert ; Padberg, George W ; Miller, Daniel G ; Tapscott, Stephen J ; Tawil, Rabi ; Frants, Rune R ; van der Maarel, Silvère M
Assuntos: Adolescent ; Adult ; Aged ; Base Sequence ; Biological and medical sciences ; Child, Preschool ; Chromatin ; Chromosome polymorphism ; Chromosomes ; Chromosomes, Human, Pair 10 - genetics ; Chromosomes, Human, Pair 4 - genetics ; Disease models ; Diseases of striated muscles. Neuromuscular diseases ; Female ; Gene expression ; Genes ; Genetic diseases ; Genetic Predisposition to Disease ; Haplotypes ; Homeodomain Proteins - genetics ; Homeodomain Proteins - physiology ; Human genetics ; Humans ; Male ; Medical genetics ; Medical sciences ; Middle Aged ; Models, Genetic ; Molecular Sequence Data ; Muscular dystrophy ; Muscular Dystrophy, Facioscapulohumeral - genetics ; Neurology ; Polyadenylation ; Polymorphism ; Polymorphism, Single Nucleotide ; Repetitive Sequences, Nucleic Acid ; Research universities ; RNA Stability ; RNA, Messenger - genetics ; RNA, Messenger - metabolism ; Transcription, Genetic ; Transfection ; Young Adult
É parte de: Science (American Association for the Advancement of Science), 2010-09, Vol.329 (5999), p.1650-1653
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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Descrição: Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy in adults that is foremost characterized by progressive wasting of muscles in the upper body. FSHD is associated with contraction of D4Z4 macrosatellite repeats on chromosome 4q35, but this contraction is pathogenic only in certain "permissive" chromosomal backgrounds. Here, we show that FSHD patients carry specific single-nucleotide polymorphisms in the chromosomal region distal to the last D4Z4 repeat. This FSHD-predisposing configuration creates a canonical polyadenylation signal for transcripts derived from DUX4, a double homeobox gene of unknown function that straddles the last repeat unit and the adjacent sequence. Transfection studies revealed that DUX4 transcripts are efficiently polyadenylated and are more stable when expressed from permissive chromosomes. These findings suggest that FSHD arises through a toxic gain of function attributable to the stabilized distal DUX4 transcript.
Editor: Washington, DC: American Association for the Advancement of Science
Idioma: Inglês

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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Washington, DC: American Association for the Advancement of Science

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