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Genetic variation in the major mitotic checkpoint genes associated with chromosomal aberrations in healthy humans
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- Försti, Asta (author)
- Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre
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- Frank, Christoph (author)
- German Cancer Research Centre
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- Smolkova, Bozena (author)
- Slovak Academy of Sciences
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- Kazimirova, Alena (author)
- Slovak Medical University
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- Barancokova, Magdalena (author)
- Slovak Medical University
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- Vymetalkova, Veronika (author)
- Charles University in Prague
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- Kroupa, Michal (author)
- Charles University in Prague
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- Naccarati, Alessio (author)
- Human Genetics Foundation (HuGeF)
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- Vodickova, Ludmila (author)
- Charles University in Prague
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- Buchancova, Janka (author)
- Comenius University
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- Dusinska, Maria (author)
- Norwegian Institute for Air Research
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- Musak, Ludovit (author)
- Comenius University,University Hospital Martin
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- Vodicka, Pavel (author)
- Charles University in Prague
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- Hemminki, Kari (author)
- Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups,German Cancer Research Centre
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(creator_code:org_t)
- Elsevier BV, 2016
- 2016
- English 5 s.
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In: Cancer Letters. - : Elsevier BV. - 0304-3835. ; 380:2, s. 442-446
- Related links:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Non-specific chromosomal aberrations (CAs) are microscopically detected in about 1% of lymphocytes drawn from healthy persons. Causes of CAs in general population are not known but they may be related to risk of cancer. In view of the importance of the mitotic checkpoint machinery on maintaining chromosomal integrity we selected 9 variants in main checkpoint related genes (BUB1B, BUB3, MAD2L1, CENPF, ESPL1/separase, NEK2, PTTG1/securin, ZWILCH and ZWINT) for a genotyping study on samples from healthy individuals (N = 330 to 729) whose lymphocytes had an increased number of CAs compared to persons with a low number of CAs. Genetic variation in individual genes played a minor importance, consistent with the high conservation and selection pressure of the checkpoint system. However, gene pairs were significantly associated with CAs: PTTG1-ZWILCH and PTTG1-ZWINT. MAD2L1 and PTTG1 were the most common partners in any of the two-way interactions. The results suggest that interactions at the level of cohesin (PTTG1) and kinetochore function (ZWINT, ZWILCH and MAD2L1) contribute to the frequency of CAs, suggesting that gene variants at different checkpoint functions appeared to be required for the formation of CAs.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Chromosomal integrity
- Cytogenetics
- DNA double-stranded break
- Spindle checkpoint
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Försti, Asta
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Frank, Christoph
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Smolkova, Bozena
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Kazimirova, Alen ...
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Barancokova, Mag ...
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Vymetalkova, Ver ...
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show more...
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Kroupa, Michal
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Naccarati, Aless ...
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Vodickova, Ludmi ...
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Buchancova, Jank ...
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Dusinska, Maria
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Musak, Ludovit
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Vodicka, Pavel
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Hemminki, Kari
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Cancer Letters
- By the university
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Lund University