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

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

Author Guilherme, Roberta Santos Autor UNIFESP Google Scholar
Moyses-Oliveira, Mariana Autor UNIFESP Google Scholar
Dantas, Anelisa Gollo Autor UNIFESP Google Scholar
Meloni, Vera Ayres Autor UNIFESP Google Scholar
Colovati, Mileny Esbravatti Autor UNIFESP Google Scholar
Kulikowski, Leslie Domenici Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Abstract 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.
Keywords Ring chromosome
Gene expression
qPCR and clinical phenotype
xmlui.dri2xhtml.METS-1.0.item-coverage Heidelberg
Language English
Sponsor Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)
Grant number FAPESP: 2012/15572-7
FAPESP: 2012/51150-0
Date 2016
Published in Journal Of Applied Genetics. Heidelberg, v. 57, n. 2, p. 183-187, 2016.
ISSN 1234-1983 (Sherpa/Romeo, impact factor)
Publisher Springer Heidelberg
Extent 183-187
Origin http://dx.doi.org/10.1007/s13353-015-0311-8
Access rights Closed access
Type Article
Web of Science ID WOS:000374320400004
URI https://repositorio.unifesp.br/handle/11600/55996

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