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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.)

Terminal 18q deletions are stabilized by neotelomeres

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Autor(es):
Guilherme, Roberta Santos [1] ; Hermetz, Karen E. [2] ; Varela, Patricia Teixeira [3] ; Alvarez Perez, Ana Beatriz [1] ; Meloni, Vera Ayres [1] ; Rudd, M. Katharine [2] ; Kulikowski, Leslie Domenici [4] ; Melaragno, Maria Isabel [1]
Número total de Autores: 8
Afiliação do(s) autor(es):
[1] Univ Fed Sao Paulo, Dept Morphol & Genet, BR-04023900 Sao Paulo - Brazil
[2] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 - USA
[3] Univ Fed Sao Paulo, Dept Biophys, BR-04023900 Sao Paulo - Brazil
[4] Univ Fed Sao Paulo, Dept Pathol, Lab Citogenom, BR-05403000 Sao Paulo - Brazil
Número total de Afiliações: 4
Tipo de documento: Artigo Científico
Fonte: MOLECULAR CYTOGENETICS; v. 8, MAY 13 2015.
Citações Web of Science: 4
Resumo

Background: All human chromosomes are capped by tandem repeat (TTAGGG)n sequences that protect them against end-to-end fusion and are essential to chromosomal replication and integrity. Therefore, after a chromosomal breakage, the deleted chromosomes must be stabilized by retaining the telomere or acquiring a new cap, by telomere healing or telomere capture. There are few reports with molecular approaches on the mechanisms involved in stabilization of 18q terminal deletions. Results: In this study we analyzed nine patients with 18q terminal deletion identified by G-banding and genomic array. FISH using PNA probe revealed telomeric signals in all deleted chromosomes tested. We fine-mapped breakpoints with customized arrays and sequenced six terminal deletion junctions. In all six deleted chromosomes sequenced, telomeric sequences were found directly attached to the breakpoints. Little or no microhomology was found at the breakpoints and none of the breaks sequenced were located in low copy repeat (LCR) regions, though repetitive elements were found around the breakpoints in five patients. One patient presented a more complex rearrangement with two deleted segments and an addition of 17 base pairs (bp). Conclusions: We found that all six deleted chromosomes sequenced were probably stabilized by the healing mechanism leading to a neotelomere formation. (AU)

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
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