Polymorphic GGC repeat differentially regulates human reelin gene expression levels.
J Neural Transm (Vienna)
; 113(10): 1373-82, 2006 Oct.
Article
en En
| MEDLINE
| ID: mdl-16604303
The human gene encoding Reelin (RELN), a pivotal protein in neurodevelopment, includes a polymorphic GGC repeat in its 5' untranslated region (UTR). CHO cells transfected with constructs encompassing the RELN 5'UTR with 4-to-13 GGC repeats upstream of the luciferase reporter gene show declining luciferase activity with increasing GGC repeat number (P < 0.005), as predicted by computer-based simulations. Conversely, RELN 5'UTR sequences boost reporter gene expression above control levels in neuronal SN56 and N2A cell lines, but 12- and 13-repeat alleles still yield 50-60% less luciferase activity compared to the more common 8- and 10-repeat alleles (P < 0.0001). RELN "long" GGC alleles significantly blunt gene expression and may, through this effect, confer vulnerability to human disorders, such as schizophrenia and autism.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Polimorfismo Genético
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Serina Endopeptidasas
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Moléculas de Adhesión Celular Neuronal
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Regulación de la Expresión Génica
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Proteínas de la Matriz Extracelular
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Repeticiones de Trinucleótidos
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Regiones no Traducidas 5'
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Proteínas del Tejido Nervioso
Límite:
Animals
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Humans
Idioma:
En
Revista:
J Neural Transm (Vienna)
Año:
2006
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Austria