Achievements
Post-zygotic mutations are changes in the genome occurring during the course of one’s lifetime and can be caused, e.g., by smoking, poor diet, viral infections, or simply cellular ageing. These mutations are so frequent that probably in an entire organism there are no two cells that are genetically identical. Such mutations make even identical twins, who develop from a single zygote, differ genetically. These mutations are also responsible for many diseases. Their identification and functional assessment are the main research focus for the researchers at the 3P Medicine Laboratory.
7-9 years is the difference between the average lifespan for men and women in Poland (Statistics Poland data for 2018). Perhaps this higher mortality among men is due to the loss of chromosome Y, as found over age in men and contributing to the development of many diseases, including cancer, Alzheimer’s and atherosclerosis. This mechanism is being studied by the 3P Medicine Laboratory team, and in 2019 their findings were published in Nature.
Examples of publications
Immune cells lacking Y chromosome show dysregulation of autosomal gene expression.
Dumanski J.P., Halvardson J., Davies H., Rychlicka-Buniowska E., Mattisson J., Moghadam B.T., Nagy N., Węglarczyk K., Bukowska-Strakova K., Danielsson M., Olszewski P., Piotrowski A., Oerton E., Ambicka A., Przewoźnik M., Bełch Ł., Grodzicki T., Chłosta P.L., Imreh S., Giedraitis V., Kilander L., Nordlund J., Ameur A., Gyllensten U., Johansson Å., Józkowicz A., Siedlar M., Klich-Rączka A., Jaszczyński J., Enroth S., Baran J., Ingelsson M., Perry J.R.B., Ryś J., Forsberg L.A.
Cell Mol Life Sci., 2021 Apr 10.
Genetic predisposition to mosaic Y chromosome loss in blood
Thompson D., Genovese G., Halvardson J., Ulirsch J., Wright D., Terao C., Davidsson O., Day F., Sulem P., Jiang Y., Danielsson M., Davies H., Dennis J., Dunlop M., Easton D., Fisher V., Zink F., Houlston R., Ingelsson M., Kar S., Kerrison N., Kristjansson R., Li R., Loveday C., Mattisson J., McCarroll S., Murakami Y., Murray A., Olszewski P., Rychlicka-Buniowska E., Scott R., Thorsteinsdottir U., Tomlinson I., Torabi Moghadam B., Turnbull C., Wareham N., Gudbjartsson D., INTEGRAL-ILCCO, The Breast Cancer Association Consortium, CIMBA, The Endometrial Cancer Association Consortium, The Ovarian Cancer Association Consortium, The PRACTICAL Consortium, The Kidney Cancer GWAS Meta-Analysis Project, eQTLGen Consortium, BIOS Consortium, 23andMe Research Team, Kamatani Y., Finucane H., Hoffmann E., Jackson S., Stefansson K., Auton A., Ong K., Machiela M., Loh P.R., Dumanski J.P., Chanock S., Forsberg L., and Perry J.
Nature, 2019, 575:652-657
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A, Nowikiewicz T, Olszewski P, Koczkowska M, Horbacz M, Heinzl M, Andreou M, Salazar R, Mair T, Madanecki P, Gucwa M, Davies H, Skokowski J, Buckley PG, Pęksa R, Śrutek E, Szylberg Ł, Hartman J, Jankowski M, Zegarski W, Tiemann-Boege I, Dumanski JP, Piotrowski A.
NPJ Breast Cancer, 2022 Jun 29;8(1):76
Coming soon
Post-zygotic mutations are changes in the genome occurring during the course of one’s lifetime and can be caused, e.g., by smoking, poor diet, viral infections, or simply cellular ageing. These mutations are so frequent that probably in an entire organism there are no two cells that are genetically identical. Such mutations make even identical twins, who develop from a single zygote, differ genetically. These mutations are also responsible for many diseases. Their identification and functional assessment are the main research focus for the researchers at the 3P Medicine Laboratory.
7-9 years is the difference between the average lifespan for men and women in Poland (Statistics Poland data for 2018). Perhaps this higher mortality among men is due to the loss of chromosome Y, as found over age in men and contributing to the development of many diseases, including cancer, Alzheimer’s and atherosclerosis. This mechanism is being studied by the 3P Medicine Laboratory team, and in 2019 their findings were published in Nature.
Examples of publications
Immune cells lacking Y chromosome show dysregulation of autosomal gene expression.
Dumanski J.P., Halvardson J., Davies H., Rychlicka-Buniowska E., Mattisson J., Moghadam B.T., Nagy N., Węglarczyk K., Bukowska-Strakova K., Danielsson M., Olszewski P., Piotrowski A., Oerton E., Ambicka A., Przewoźnik M., Bełch Ł., Grodzicki T., Chłosta P.L., Imreh S., Giedraitis V., Kilander L., Nordlund J., Ameur A., Gyllensten U., Johansson Å., Józkowicz A., Siedlar M., Klich-Rączka A., Jaszczyński J., Enroth S., Baran J., Ingelsson M., Perry J.R.B., Ryś J., Forsberg L.A.
Cell Mol Life Sci., 2021 Apr 10.
Genetic predisposition to mosaic Y chromosome loss in blood
Thompson D., Genovese G., Halvardson J., Ulirsch J., Wright D., Terao C., Davidsson O., Day F., Sulem P., Jiang Y., Danielsson M., Davies H., Dennis J., Dunlop M., Easton D., Fisher V., Zink F., Houlston R., Ingelsson M., Kar S., Kerrison N., Kristjansson R., Li R., Loveday C., Mattisson J., McCarroll S., Murakami Y., Murray A., Olszewski P., Rychlicka-Buniowska E., Scott R., Thorsteinsdottir U., Tomlinson I., Torabi Moghadam B., Turnbull C., Wareham N., Gudbjartsson D., INTEGRAL-ILCCO, The Breast Cancer Association Consortium, CIMBA, The Endometrial Cancer Association Consortium, The Ovarian Cancer Association Consortium, The PRACTICAL Consortium, The Kidney Cancer GWAS Meta-Analysis Project, eQTLGen Consortium, BIOS Consortium, 23andMe Research Team, Kamatani Y., Finucane H., Hoffmann E., Jackson S., Stefansson K., Auton A., Ong K., Machiela M., Loh P.R., Dumanski J.P., Chanock S., Forsberg L., and Perry J.
Nature, 2019, 575:652-657
Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals
Danielsson M., Halvardson J., Davies H., Torabi Moghadam B., Mattisson J., Rychlicka-Buniowska E., Heintz J., Lannfelt L., Giedraitis V., Ingelsson M., Dumanski J.P. (*), Forsberg L. (*)
Eur J Hum Genet, 2020, 28:349-357
