نتایج جستجو برای: chromosome breakage

تعداد نتایج: 125536  

Journal: :Journal of medical genetics 1973
M M Cohen M H MacGillivray V J Capraro T A Aceto

ture yielded 15 additional cases of dicentric Y chromosomes. Among the cases, a wide range ofvariation in phenotype, external genitalia, histology, and chromosomal findings was observed. Factors possibly contributing to such variability are discussed and include: the exact site of breakage and exchange in the Y chromosome; the timing of dicentric formation (meiotic vs mitotic); the occurrence o...

الهه کیهانی, , حسین نجم آبادی, , رکسانا کریمی‌نژاد, , زهره علومی, , ساغر قاسمی فیروز آبادی, , فرحناز امینی, , فرخنده بهجتی, , فریده موسوی, , یوسف شفقتی, ,

Background: Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemia, and bone marrow failure (aplastic anemia). FA has been reported in all races and ethnic groups and affects men and women in an equal proportion. The frequency of FA has been estimated at approximately 1 per 360,000 live birt...

Journal: :The Journal of Experimental Medicine 2002
Michael J. Difilippantonio Simone Petersen Hua Tang Chen Roger Johnson Maria Jasin Roland Kanaar Thomas Ried André Nussenzweig

Nonreciprocal translocations and gene amplifications are commonly found in human tumors. Although little is known about the mechanisms leading to such aberrations, tissue culture models predict that they can arise from DNA breakage, followed by cycles of chromatid fusion, asymmetric mitotic breakage, and replication. Mice deficient in both a nonhomologous end joining (NHEJ) DNA repair protein a...

Journal: :Molecular cell 2002
Jennifer A Young Randall W Schreckhise Walter W Steiner Gerald R Smith

DNA breakage is intimately associated with meiotic recombination in the fission yeast Schizosaccharomyces pombe. Sites of prominent DNA breakage were found approximately 25 to approximately 200 kb apart in the genomic regions surveyed. We examined in detail a 501 kb region of chromosome I and found six sites, or tight clusters of sites, at which approximately 2%-11% of the DNA accumulated break...

Journal: :Genetics 1960
D R Parker

ORK on recessive lethal mutation in Drosophila sperm has suggested ways win which chromosome breakage may be related to recessive lethal mutation, through position effect, deficiency, and as a direct result of breakage. The increase in aged oocytes of radiation-induced dominant lethals (PARKER 1959) and of rearrangement, the slower rejoining of breaks (PARKER and HAMMOND 1958) , and the higher ...

2016
Ronni S Pedersen Gopal Karemore Thorkell Gudjonsson Maj-Britt Rask Beate Neumann Jean-Karim Hériché Rainer Pepperkok Jan Ellenberg Daniel W Gerlich Jiri Lukas Claudia Lukas

Genome integrity relies on precise coordination between DNA replication and chromosome segregation. Whereas replication stress attracted much attention, the consequences of mitotic perturbations for genome integrity are less understood. Here, we knockdown 47 validated mitotic regulators to show that a broad spectrum of mitotic errors correlates with increased DNA breakage in daughter cells. Une...

2008
Maria Rosaria Scarfì

The cytokinesis-block micronucleus assay is a sensitive and simple indicator of chromosome damage, both chromosome loss and chromosome breakage, which also provides information on cell cycle progression and cytotoxicity. It was introduced in 1985 and has been successfully employed in many laboratories on different cell types to monitor exposed population, to identify mutagen-sensitive individua...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1987
M M Green M T Yamamoto G L Miklos

We present data that demonstrate that three MR elements isolated from wild populations of Drosophila melanogaster on two continents can cause large deletions of the X chromosome in males. The deleted chromosomes, termed mini-X chromosomes, are induced at a frequency of approximately 1:4000 in chromosomes that are initially free of P elements. In situ hybridizations using a cloned P sequence as ...

2013
Adriana Zamecnikova Soad Al Bahar

Although the underlying mechanism for these chromosomal alterations is unclear, it is possible that chromosomes with large constitutive heterochromatin bands such as chromosome 1 may be at risk of centromeric instability and be predisposed to centromeric fusion with other chromosomes. This possibility is supported by observations that unbalanced chromosome rearrangements frequently involve the ...

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