Cri-du-Chat Syndrome interactome network: Correlating genotypic variations to associated phenotypes

Autor(es)

Figueiredo Leite, Giuseppe Gianini ^[1] ; Azevedo, Hatylas ^[2] ; de Oliveira, Talita Mendes ^[1] ; Sousa Furtado, Danielle Zildeana ^[1] ; Assuncao, Nilson Antonio ^[1]

Afiliação do(s) autor(es)

^[1] Fed Univ Sao Paulo Unifesp, Sao Paulo, SP - Brazil

^[2] Univ Sao Paulo, Fac Med, Dept Pediat, Sao Paulo, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: GENE REPORTS; v. 11, p. 179-187, JUN 2018.
• Citações Web of Science: 1

Resumo

Cri-du-Chat Syndrome (CDCS) is a rare genetic disorder caused by the partial deletion of the chromosome 5 short arm (5p-) that results in morpho-physiological abnormalities. This study reports a network view of the genes from this deleted region for understanding disease phenotypes and the corresponding genotype variants. Of the 79 genes present in the 5p-region, 69 genes with known interactions were used as seeds in a network containing 1359 nodes and 6831 edges; most of the genes are encoded by chromosome 1. The nodes with high degree and betweenness centralities (key nodes) - 12 from the 5p-region and 3 from other chromosomes - were selected for functional enrichment analysis. Gene ontology analysis of these nodes revealed potential changes in metabolic and catalytic processes that may be associated with the syndrome phenotypes. Overall, these results show a network view of 5prelated genes and reveal potential related functions that may lead to known symptoms in CDCS patients. (AU)

• Processo FAPESP: 13/21455-6 - Estudo bioanalítico aplicado á busca do perfil dos aminoácidos do plasma sanguíneo de portadores da Síndrome Cri-Du-Chat
• Beneficiário: Danielle Zildeana Sousa Furtado
• Modalidade de apoio: Bolsas no Brasil - Mestrado
• Processo FAPESP: 12/02514-9 - Uso de técnicas proteômicas para o estudo da acetilação de proteínas via radicalar desencadeada pelos produtos da reação diacetil/peroxinitrito
• Beneficiário: Nilson Antonio de Assunção
• Modalidade de apoio: Auxílio à Pesquisa - Regular