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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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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]
Total Authors: 7
[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
Total Affiliations: 2
Document type: Journal article
Source: JOURNAL OF APPLIED GENETICS; v. 57, n. 2, p. 183-187, MAY 2016.
Web of Science Citations: 5

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)

FAPESP's process: 12/15572-7 - Investigation of the mechanisms involved in the formation and stabilization of ring chromosome, supernumerary markers and terminal deletion.
Grantee:Roberta dos Santos Guilherme
Support type: Scholarships in Brazil - Doctorate
FAPESP's process: 12/51150-0 - Investigation of the mechanisms involved in the formation and stabilization of ring chromosome, supemumerary markers and terminal deletions
Grantee:Maria Isabel de Souza Aranha Melaragno
Support type: Regular Research Grants