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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels

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Autor(es):
Hesling, Cédric ; Oliveira, Carla C. ; Castilho, Beatriz A. ; Zanchin, Nilson I. T.
Número total de Autores: 4
Tipo de documento: Artigo Científico
Fonte: Experimental Cell Research; v. 313, n. 20, p. 4180-4195, Dec. 2007.
Área do conhecimento: Ciências Biológicas - Bioquímica
Assunto(s):Doenças metabólicas   Síndrome de Shwachman-Diamond   Perfilação da expressão gênica   Interferência de RNA
Resumo

The Shwachman-Bodian-Diamond syndrome (SDS) is an autosomal disorder with pleiotropic phenotypes including pancreatic, skeletal and bone marrow deficiencies and predisposition to hematological dysfunctions. SDS has been associated to mutations in the SBDS gene, encoding a highly conserved protein that was shown to function in ribosome biogenesis in yeast. In this work, we show that SBDS is found in complexes containing the human Nip7 ortholog. Analysis of pre-rRNA processing in a stable SBDS knock-down HEK293-derivative cell line revealed accumulation of a small RNA which is a further indication of SBDS involvement in rRNA biosynthesis. Global transcription and polysome-bound mRNA profiling revealed that SBDS knock-down affects expression of critical genes involved in brain development and function, bone morphogenesis, blood cell proliferation and differentiation, and cell adhesion. Expression of a group of growth and signal transduction factors and of DNA damage response genes is also affected. In SBDS knock-down cells, 34 mRNAs showed decreased and 55 mRNAs showed increased association to polysomes, among which is a group encoding proteins involved in alternative splicing and RNA modification. These results indicate that SBDS is required for accurate expression of genes important for proper brain, skeletal, and blood cell development. (AU)

Processo FAPESP: 06/02083-7 - Caracterização funcional de proteínas envolvidas no controle da expressão gênica
Beneficiário:Nilson Ivo Tonin Zanchin
Linha de fomento: Auxílio à Pesquisa - Regular
Processo FAPESP: 00/10266-8 - A structural biology laboratory network for the study of the 3D structures of proteins
Beneficiário:Nilson Ivo Tonin Zanchin
Linha de fomento: Auxílio à Pesquisa - Programa GENOMA
Processo FAPESP: 98/14138-2 - Center for Structural Molecular Biotechnology
Beneficiário:Glaucius Oliva
Linha de fomento: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs