Increased expression of 5q31 fragile site in a Bloom syndrome family

Fundia, Ariela; Gorla, Nora; Bonduel, Mariana; Azpilicueta, Osvaldo; Lejarraga, Horacio; Muriel, Federico Sackman; Larripa, Irene

doi:10.1007/bf00219187

Cited by 11 publications

(8 citation statements)

References 18 publications

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“…MiR-874 is located on chromosome 5q31.2, a well-known fragile site in the human genome that is often deleted in cancers and genetic disorders and specifically correlates with chromosomal rearrangements in cancer (Fundia et al, 1992;Thorland et al, 2003). It has been observed to be downregulated in maxillary sinus squamous cell carcinoma (Nohata et al, 2011), gastric cancer (Jiang et al, 2014;Zhang et al, 2015), non-small cell lung cancer (Kesanakurti et al, 2013), and breast cancer , where it acts as a candidate tumor suppressor.…”

Section: Introductionmentioning

confidence: 99%

Decreased expression of tumor suppressive miR-874 and its clinical significance in human osteosarcoma

Zhang¹,

Sun²,

Li³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Dysregulation of microRNAs (miRs) is associated with cancer development and progression and aberrant expression of miR-874 have been found in some types of cancer. However, the expression and function of miR-874 in osteosarcoma remain unclear. The aim of this study was to explore the effects of miR-874 in osteosarcoma tumorigenesis and development. The expression level of miR-874 was quantified by real-time reverse transcription-polymerase chain reaction (RT-PCR) in human osteosarcoma cell lines and tissues. Using a miR-874 mimic, cell proliferation and migration assays were performed in an osteosarcoma cell line and tumorigenicity was observed in vivo in order to determine the effects of miR-874 in osteosarcoma cell lines and tissues. MiR-874 was significantly downregulated in osteosarcoma cell lines and clinical (2015) specimens. Decreased miR-874 expression was significantly associated with large tumor size, distant metastasis, and advanced clinical stage, and was an independent predictor of poor survival. Overexpression of miR-874 inhibited cell proliferation, invasion and migration in vitro, promoted cell apoptosis in vitro, and suppressed tumorigenicity in vivo. These findings indicate that miR-874 may act as a tumor suppressor in osteosarcoma and could serve as a novel therapeutic agent for miRbased therapy.

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Section: Introductionmentioning

confidence: 99%

Decreased expression of tumor suppressive miR-874 and its clinical significance in human osteosarcoma

Zhang¹,

Sun²,

Li³

et al. 2015

Genet. Mol. Res.

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“…Moreover, chromosome breaks specific for certain cancers are frequently found at these regions (KUHN and THERMAN 1986). We have previously reported a significantly increased expression of fragile site 5q31 in this family, and a remarkable coincidence between the location of spontaneous CA from CeYu and DaYu and fragile sites induced in their lymphocytes, suggesting that chromosomal instability occurs at specific points (FUNDIA et al 1992).…”

Section: Resultsmentioning

confidence: 56%

“…Slides were destained and sequential G-banding was done to allow the identification of the breakpoints involved in CA. Some data from spontaneous breakage were previously described in these 2 patients ( FUNDIA et al 1992). Bands significantly involved in BS, parent and control groups were ascertained by analyzing the breakpoint distribution with BRBGGER'S formula ( 1977).…”

Section: Methodsmentioning

confidence: 99%

Non-Random Distribution of Spontaneous Chromosome Aberrations in two Bloom Syndrome Patients

2004

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The distribution of breakpoints involved in spontaneous chromosome aberrations (CA) was analyzed in lymphocytes from a family with Bloom's Syndrome (BS) and 9 healthy individuals. Standard and G-banded metaphases from each individual were analyzed to allow the identification of the breakpoints involved in spontaneously occurring chromosome aberrations. A total of 85 breakpoints in BS patients, 17 in their parents and 35 in controls, could be exactly localized to specific chromosome bands. Breakpoint distribution was statistically analyzed considering the formula proposed by Brøgger (1977), showing a non-random pattern in BS patients. Thirteen bands non-randomly involved in spontaneous CA (p < 0.005) were recognized in BS, located at 1p36, 1q21, 1q32, 2q33, 3p24, 3p14, 3q27, 5q31, 6p21, 7q22, 9q13, 11q13, and 17q23. Only 1 band (1q21) was significantly implicated in both parents (p < 0.005), while controls showed a random distribution. BS non-random bands were correlated with the chromosomal location of fragile sites, oncogenes, and breakpoints involved in cancer rearrangements. A significant correlation with the location of fragile sites and cancer-breakpoints (p < 0.005), particularly with acute myeloid leukemia and malignant lymphomas rearrangements was found. These findings demonstrate that constitutional chromosome instability in BS might involve specific points, such as fragile sites and cancer breakpoints, suggesting an association with the increased incidence of cancer.

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“…The spontaneous sister chromatid exchanges occur at a frequency that is 10-to 15-fold higher than control values (5,9). The characteristic configurations of mitotic crossing-over in Bloom syndrome are symmetrical quadriradial interchange figures (12), which are only found in homozygotes (13). The chromosomal abnormalities arc usually found in lymphocytes, but can be obsen'ed in cultured fibroblasts and direct bone marrow preparations (14).…”

Section: Discussionmentioning

confidence: 91%

A Case of Bloom Syndrome with Conjunctival Telangiectasia

Sahn¹,

Hussey²,

Christmann³

1997

Pediatric Dermatology

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Bloom syndrome is a rare genodermatosis characterized by photosensitivity, telangiectasias, growth retardation and malignancies. Eye findings have rarely been mentioned in case reports of this syndrome. We report a child with Bloom syndrome who had pronounced bulbar conjunctival telangiectasia originally diagnosed as episcleritis. Bulbar telangiectasia are frequently described in other genodermatoses such as ataxia telangiectasia and hereditary hemorrhagic telangiectasia, but are infrequently noted in Bloom syndrome. Previously described eye findings in Bloom syndrome are reviewed and the differential diagnosis of bulbar telangiectasia is discussed.

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Increased expression of 5q31 fragile site in a Bloom syndrome family

Cited by 11 publications

References 18 publications

Decreased expression of tumor suppressive miR-874 and its clinical significance in human osteosarcoma

Decreased expression of tumor suppressive miR-874 and its clinical significance in human osteosarcoma

Non-Random Distribution of Spontaneous Chromosome Aberrations in two Bloom Syndrome Patients

A Case of Bloom Syndrome with Conjunctival Telangiectasia

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