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Alzheimer's Disease Genetics and ABCA7 Splicing.
Vasquez, Jared B; Simpson, James F; Harpole, Ryan; Estus, Steven.
Afiliación
  • Vasquez JB; Department of Physiology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA.
  • Simpson JF; Department of Physiology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA.
  • Harpole R; Department of Physiology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA.
  • Estus S; Department of Physiology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA.
J Alzheimers Dis ; 59(2): 633-641, 2017.
Article en En | MEDLINE | ID: mdl-28655137
Both common and rare polymorphisms within ABCA7 have been associated with Alzheimer's disease (AD). In particular, the rare AD associated polymorphism rs200538373 was associated with altered ABCA7 exon 41 splicing and an AD risk odds ratio of ∼1.9. To probe the role of this polymorphism in ABCA7 splicing, we used minigene studies and qPCR of human brain RNA. We report aberrant ABCA7 exon 41 splicing in the brain of a carrier of the rs200538373 minor C allele. Moreover, minigene studies show that rs200538373 acts as a robust functional variant in vitro. Lastly, although the ABCA7 isoform with an extended exon 41 is predicted to undergo nonsense mediated RNA decay, this was not supported by qPCR analyses, which showed relatively normal ABCA7 mRNA levels in the carrier of the rs200538373 minor C allele. In summary, rs200538373 is a functional polymorphism that alters ABCA7 exon 41 splicing without grossly altering the level of ABCA7 mRNA.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme del ARN / Transportadoras de Casetes de Unión a ATP / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Enfermedad de Alzheimer Tipo de estudio: Prognostic_studies Límite: Aged80 / Female / Humans / Male Idioma: En Revista: J Alzheimers Dis Asunto de la revista: GERIATRIA / NEUROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Países Bajos
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme del ARN / Transportadoras de Casetes de Unión a ATP / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Enfermedad de Alzheimer Tipo de estudio: Prognostic_studies Límite: Aged80 / Female / Humans / Male Idioma: En Revista: J Alzheimers Dis Asunto de la revista: GERIATRIA / NEUROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Países Bajos