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Genetic variation in the major mitotic checkpoint genes associated with chromosomal aberrations in healthy humans

A. Försti, C. Frank, B. Smolkova, A. Kazimirova, M. Barancokova, V. Vymetalkova, M. Kroupa, A. Naccarati, L. Vodickova, J. Buchancova, M. Dusinska, L. Musak, P. Vodicka, K. Hemminki,

. 2016 ; 380 (2) : 442-6. [pub] 20160715

Jazyk angličtina Země Irsko

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc17031576

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.

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$a Försti, Asta $u Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany; Center for Primary Health Care Research, Lund University, Malmö, Sweden. Electronic address: a.foersti@dkfz.de.
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$a Genetic variation in the major mitotic checkpoint genes associated with chromosomal aberrations in healthy humans / $c A. Försti, C. Frank, B. Smolkova, A. Kazimirova, M. Barancokova, V. Vymetalkova, M. Kroupa, A. Naccarati, L. Vodickova, J. Buchancova, M. Dusinska, L. Musak, P. Vodicka, K. Hemminki,
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$a 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.
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$a Frank, Christoph $u Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany.
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$a Smolkova, Bozena $u Department of Genetics, Cancer Research Institute of Slovak Academy of Sciences, Vlarska 7, 83391 Bratislava, Slovakia.
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$a Kazimirova, Alena $u Faculty of Medicine, Slovak Medical University, Limbova 12, 83303 Bratislava, Slovakia.
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$a Barancokova, Magdalena $u Faculty of Medicine, Slovak Medical University, Limbova 12, 83303 Bratislava, Slovakia.
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$a Vymetalkova, Veronika $u Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Videnska 1083, 14200 Prague, Czech Republic; Institute of Biology and Medical Genetics, 1st Medical Faculty, Charles University, Albertov 4, 12800 Prague, Czech Republic.
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$a Kroupa, Michal $u Institute of Biology and Medical Genetics, 1st Medical Faculty, Charles University, Albertov 4, 12800 Prague, Czech Republic; Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, 30605 Pilsen, Czech Republic.
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$a Naccarati, Alessio $u Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Videnska 1083, 14200 Prague, Czech Republic; Human Genetics Foundation, Turin, Italy.
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$a Vodickova, Ludmila $u Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Videnska 1083, 14200 Prague, Czech Republic; Institute of Biology and Medical Genetics, 1st Medical Faculty, Charles University, Albertov 4, 12800 Prague, Czech Republic; Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, 30605 Pilsen, Czech Republic.
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$a Buchancova, Janka $u Department of Public Health, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Sklabinska 26, 03601 Martin, Slovakia.
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$a Dusinska, Maria $u Health Effects Laboratory, Department of Environmental Chemistry, NILU-Norwegian Institute for Air Research, Instituttveien 18, 2007 Kjeller, Norway.
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$a Musak, Ludovit $u Clinic of Occupational Medicine and Toxicology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin, Kollarova 2, 03601 Martin, Slovakia.
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$a Vodicka, Pavel $u Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Videnska 1083, 14200 Prague, Czech Republic; Institute of Biology and Medical Genetics, 1st Medical Faculty, Charles University, Albertov 4, 12800 Prague, Czech Republic.
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$a Hemminki, Kari $u Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany; Center for Primary Health Care Research, Lund University, Malmö, Sweden.
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