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J Am Soc Nephrol ; 27(6): 1617-24, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26490391

RESUMO

The regulators of complement activation cluster at chromosome 1q32 contains the complement factor H (CFH) and five complement factor H-related (CFHR) genes. This area of the genome arose from several large genomic duplications, and these low-copy repeats can cause genome instability in this region. Genomic disorders affecting these genes have been described in atypical hemolytic uremic syndrome, arising commonly through nonallelic homologous recombination. We describe a novel CFH/CFHR3 hybrid gene secondary to a de novo 6.3-kb deletion that arose through microhomology-mediated end joining rather than nonallelic homologous recombination. We confirmed a transcript from this hybrid gene and showed a secreted protein product that lacks the recognition domain of factor H and exhibits impaired cell surface complement regulation. The fact that the formation of this hybrid gene arose as a de novo event suggests that this cluster is a dynamic area of the genome in which additional genomic disorders may arise.


Assuntos
Síndrome Hemolítico-Urêmica Atípica/genética , Proteínas Sanguíneas/genética , Ativação do Complemento/genética , Deleção de Genes , Animais , Células Cultivadas , Fator H do Complemento/genética , Humanos , Ovinos
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