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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.)

Position effect modifying gene expression in a patient with ring chromosome 14

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Autor(es):
Guilherme, Roberta Santos [1] ; Moyses-Oliveira, Mariana [1] ; Dantas, Anelisa Gollo [1] ; Meloni, Vera Ayres [1] ; Colovati, Mileny Esbravatti [1] ; Kulikowski, Leslie Domenici [2] ; Melaragno, Maria Isabel [1]
Número total de Autores: 7
Afiliação do(s) autor(es):
[1] Univ Fed Sao Paulo, Dept Morphol & Genet, Rua Botucatu 740, BR-04023900 Sao Paulo - Brazil
[2] Univ Sao Paulo, Dept Pathol, Lab Citogenom, Ave Dr Eneas Carvalho de Aguiar 647, BR-05403000 Sao Paulo - Brazil
Número total de Afiliações: 2
Tipo de documento: Artigo Científico
Fonte: JOURNAL OF APPLIED GENETICS; v. 57, n. 2, p. 183-187, MAY 2016.
Citações Web of Science: 5
Resumo

The clinical phenotype of patients with ring chromosomes usually reflects the loss of genomic material during ring formation. However, phenotypic alterations can also be found in the presence of complete ring chromosomes, in which the breakage and rejoining in terminal regions of both chromosome arms result in no gene loss. Here, we present a patient with a ring chromosome 14 that lost nothing but the telomeres. Since he and other patients with a similar chromosome abnormality present certain abnormal characteristics, we investigated the gene expression of eight chromosome 14 genes to find out whether the configuration of the ring had changed it, possibly producing some of these clinical features. The expression of these eight genes was studied by quantitative real-time polymerase chain reaction (qPCR) in the patient and in seven controls matched for gender and age. Two of them were found to be downregulated in the patient compared to the controls, indicating that his phenotype might be related to alterations in the expression of genes located in the abnormal chromosome, even when the copy number is normal. Thus, the phenotypic alterations found in the presence of complete ring chromosomes may be related to changes in the chromatin architecture, bringing about a change of expression by position effect. These results may explain some of the characteristics presented by our patient. (AU)

Processo FAPESP: 12/51150-0 - Investigação dos mecanismos envolvidos na formação e estabilização de cromossomos em anel, marcadores supranumerários e deleções terminais
Beneficiário:Maria Isabel de Souza Aranha Melaragno
Linha de fomento: Auxílio à Pesquisa - Regular
Processo FAPESP: 12/15572-7 - Investigação dos mecanismos envolvidos na formação e estabilização de cromossomos em anel, marcadores supranumerários e delecões terminais
Beneficiário:Roberta dos Santos Guilherme
Linha de fomento: Bolsas no Brasil - Doutorado