Back to Search
Start Over
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
- Source :
- Machiela, M J, Zhou, W, Karlins, E, Sampson, J N, Freedman, N D, Yang, Q, Hicks, B D, Dagnall, C, Hautman, C, Jacobs, K B, Abnet, C C, Aldrich, M C, Amos, C I, Amundadottir, L T, Arslan, A A, Beane-Freeman, L E, Berndt, S I, Black, A, Blot, W J, Bock, C H, Bracci, P M, Brinton, L A, Bueno-de-Mesquita, H B, Burdett, L, Buring, J E, Butler, M A, Canzian, F, Carreón, T, Chaffee, K G, Chang, I-S, Chatterjee, N, Chen, C, Chen, C, Chen, K, Chung, C C, Cook, L S, Crous Bou, M, Cullen, M, Davis, F G, De Vivo, I, Ding, T, Doherty, J, Duell, E J, Epstein, C G, Fan, J H, Figueroa, J D, Fraumeni, J F, Friedenreich, C M, Fuchs, C S, Gallinger, S, Gao, Y T, Gapstur, S M, García-Closas, M, Gaudet, M, Gaziano, J M, Giles, G, Gillanders, E M, Giovannucci, E L, Goldin, L, Goldstein, A M, Haiman, C A, Hallmans, G, Hankinson, S E, Harris, C C, Henriksson, R, Holly, E A, Hong, Y C, Hoover, R N, Hsiung, C A, Hu, N, Hu, Z-W, Hunter, D J, Hutchinson, A, Jenab, M, Johansen, C, Khaw, K-T, Kim, H N, Kim, Y H, Kim, Y T, Klein, A P, Klein, R J, Koh, W-P, Kolonel, L N, Kooperberg, C, Kraft, P, Krogh, V, Kurtz, R C, LaCroix, A Z, Lan, Q, Landi, M T, Marchand, L L, Li, D, Liang, X, Liao, L M, Lin, D, Liu, J, Lissowska, J, Lu, L, Magliocco, A M, Malats, N, Matsuo, K, McNeill, L H, McWilliams, R R, Melin, B S, Mirabello, L, Moore, L, Olson, S H, Orlow, I, Park, J Y, Patinõ-Garcia, A, Peplonska, B, Peters, U, Petersen, G M, Pooler, L C, Prescott, J, Prokunina-Olsson, L, Purdue, M P, Qiao, Y L, Rajaraman, P, Real, F X, Riboli, E, Risch, H A, Rodríguez-Santiago, B, Ruder, A M, Savage, S A, Schumacher, F, Schwartz, A G, Schwartz, K L, Seow, A, Wendy Setiawan, V, Severi, G, Shen, H, Sheng, X, Shin, M H, Shu, X-O, Silverman, D T, Spitz, M R, Stevens, V L, Stolzenberg-Solomon, R, Stram, D O, Tang, Z Z, Taylor, P R, Teras, L R, Tobias, G S, Van Den Berg, D, Visvanathan, K, Wacholder, S, Wang, J C, Wang, Z, Wentzensen, N, Wheeler, W, White, E, Wiencke, J K, Wolpin, B M, Wong, M P, Wu, C, Wu, T, Wu, X, Wu, Y L, Wunder, J S, Xia, L, Yang, H P, Yang, P C, Yu, K, Zanetti, K A, Zeleniuch-Jacquotte, A, Zheng, W, Zhou, B, Ziegler, R G, Perez-Jurado, L A, Caporaso, N E, Rothman, N, Tucker, M A, Dean, M C, Yeager, M & Chanock, S J 2016, ' Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome ', Nature Communications, vol. 7, 11843 . https://doi.org/10.1038/ncomms11843, Nature Communications, Vol 7, Iss 1, Pp 1-9 (2016), Machiela, Mitchell J; Zhou, Weiyin; Karlins, Eric; Sampson, Joshua N; Freedman, Neal D; Yang, Qi; et al.(2016). Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. NATURE COMMUNICATIONS, 7. doi: 10.1038/ncomms118431. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/1nv5x0k2, Recercat. Dipósit de la Recerca de Catalunya, instname, Machiela, M J, Zhou, W, Karlins, E, Sampson, J N, Freedman, N D, Yang, Q, Hicks, B, Dagnall, C, Hautman, C, Jacobs, K B, Abnet, C C, Aldrich, M C, Amos, C, Amundadottir, L T, Arslan, A A, Beane-Freeman, L E, Berndt, S I, Black, A, Blot, W J, Bock, C H, Bracci, P M, Brinton, L A, Bueno-de-Mesquita, H B, Burdett, L, Buring, J E, Butler, M A, Canzian, F, Carreón, T, Chaffee, K G, Chang, I-S, Chatterjee, N, Chen, C, Chen, C, Chen, K, Chung, C C, Cook, L S, Crous Bou, M, Cullen, M, Davis, F G, De Vivo, I, Ding, T, Doherty, J, Duell, E J, Epstein, C G, Fan, J-H, Figueroa, J D, Fraumeni, J F, Friedenreich, C M, Fuchs, C S, Gallinger, S, Gao, Y-T, Gapstur, S M, Garcia-Closas, M, Gaudet, M M, Gaziano, J M, Giles, G G, Gillanders, E M, Giovannucci, E L, Goldin, L, Goldstein, A M, Haiman, C A, Hallmans, G, Hankinson, S E, Harris, C C, Henriksson, R, Holly, E A, Hong, Y-C, Hoover, R N, Hsiung, C A, Hu, N, Hu, W, Hunter, D J, Hutchinson, A, Jenab, M, Johansen, C, Khaw, K-T, Kim, H N, Kim, Y H, Kim, Y T, Klein, A P, Klein, R, Koh, W-P, Kolonel, L N, Kooperberg, C, Kraft, P, Krogh, V, Kurtz, R C, LaCroix, A, Lan, Q, Landi, M T, Marchand, L L, Li, D, Liang, X, Liao, L M, Lin, D, Liu, J, Lissowska, J, Lu, L, Magliocco, A M, Malats, N, Matsuo, K, McNeill, L H, McWilliams, R R, Melin, B S, Mirabello, L, Moore, L, Olson, S H, Orlow, I, Park, J Y, Patiño-Garcia, A, Peplonska, B, Peters, U, Petersen, G M, Pooler, L, Prescott, J, Prokunina-Olsson, L, Purdue, M P, Qiao, Y-L, Rajaraman, P, Real, F X, Riboli, E, Risch, H A, Rodriguez-Santiago, B, Ruder, A M, Savage, S A, Schumacher, F, Schwartz, A G, Schwartz, K L, Seow, A, Wendy Setiawan, V, Severi, G, Shen, H, Sheng, X, Shin, M-H, Shu, X-O, Silverman, D T, Spitz, M R, Stevens, V L, Stolzenberg-Solomon, R, Stram, D, Tang, Z-Z, Taylor, P R, Teras, L R, Tobias, G S, Van Den Berg, D, Visvanathan, K, Wacholder, S, Wang, J-C, Wang, Z, Wentzensen, N, Wheeler, W, White, E, Wiencke, J K, Wolpin, B M, Wong, M P, Wu, C, Wu, T, Wu, X, Wu, Y-L, Wunder, J S, Xia, L, Yang, H P, Yang, P-C, Yu, K, Zanetti, K A, Zeleniuch-Jacquotte, A, Zheng, W, Zhou, B, Ziegler, R G, Perez-Jurado, L A, Caporaso, N E, Rothman, N, Tucker, M, Dean, M C, Yeager, M & Chanock, S J 2016, ' Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome ', Nature Communications, vol. 7, pp. 11843 . https://doi.org/10.1038/ncomms11843, Repisalud, Instituto de Salud Carlos III (ISCIII), Nature Communications
- Publication Year :
- 2016
- Publisher :
- Nature Publishing Group, 2016.
-
Abstract
- To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases.<br />It is unclear how often genetic mosaicism of chromosome X arises. Here, the authors examine women with cancer and cancer-free controls and show that X chromosome mosaicism occurs more frequently than on autosomes, especially on the inactive X chromosome, but is not linked to non-haematologic cancer risk
- Subjects :
- 0301 basic medicine
Male
medicine.medical_specialty
Aging
BLOOD
SOMATIC MOSAICISM
Science
General Physics and Astronomy
Biology
HEMATOPOIESIS
Polymerase Chain Reaction
Article
General Biochemistry, Genetics and Molecular Biology
X-inactivation
03 medical and health sciences
X Chromosome Inactivation
MD Multidisciplinary
medicine
HUMAN GENOME
Humans
MUTATION
Cancer genetics
X chromosome
Genetic association
Genetics
Chromosomes, Human, X
Science & Technology
Multidisciplinary
Autosome
ANEUPLOIDIES
Mosaicism
METHYLATION
Chromosome
Reproducibility of Results
General Chemistry
DNA Methylation
CANCER
3. Good health
Multidisciplinary Sciences
030104 developmental biology
DETECTABLE CLONAL MOSAICISM
CELLS
Science & Technology - Other Topics
Medical genetics
Human genome
Female
SNP array
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Machiela, M J, Zhou, W, Karlins, E, Sampson, J N, Freedman, N D, Yang, Q, Hicks, B D, Dagnall, C, Hautman, C, Jacobs, K B, Abnet, C C, Aldrich, M C, Amos, C I, Amundadottir, L T, Arslan, A A, Beane-Freeman, L E, Berndt, S I, Black, A, Blot, W J, Bock, C H, Bracci, P M, Brinton, L A, Bueno-de-Mesquita, H B, Burdett, L, Buring, J E, Butler, M A, Canzian, F, Carreón, T, Chaffee, K G, Chang, I-S, Chatterjee, N, Chen, C, Chen, C, Chen, K, Chung, C C, Cook, L S, Crous Bou, M, Cullen, M, Davis, F G, De Vivo, I, Ding, T, Doherty, J, Duell, E J, Epstein, C G, Fan, J H, Figueroa, J D, Fraumeni, J F, Friedenreich, C M, Fuchs, C S, Gallinger, S, Gao, Y T, Gapstur, S M, García-Closas, M, Gaudet, M, Gaziano, J M, Giles, G, Gillanders, E M, Giovannucci, E L, Goldin, L, Goldstein, A M, Haiman, C A, Hallmans, G, Hankinson, S E, Harris, C C, Henriksson, R, Holly, E A, Hong, Y C, Hoover, R N, Hsiung, C A, Hu, N, Hu, Z-W, Hunter, D J, Hutchinson, A, Jenab, M, Johansen, C, Khaw, K-T, Kim, H N, Kim, Y H, Kim, Y T, Klein, A P, Klein, R J, Koh, W-P, Kolonel, L N, Kooperberg, C, Kraft, P, Krogh, V, Kurtz, R C, LaCroix, A Z, Lan, Q, Landi, M T, Marchand, L L, Li, D, Liang, X, Liao, L M, Lin, D, Liu, J, Lissowska, J, Lu, L, Magliocco, A M, Malats, N, Matsuo, K, McNeill, L H, McWilliams, R R, Melin, B S, Mirabello, L, Moore, L, Olson, S H, Orlow, I, Park, J Y, Patinõ-Garcia, A, Peplonska, B, Peters, U, Petersen, G M, Pooler, L C, Prescott, J, Prokunina-Olsson, L, Purdue, M P, Qiao, Y L, Rajaraman, P, Real, F X, Riboli, E, Risch, H A, Rodríguez-Santiago, B, Ruder, A M, Savage, S A, Schumacher, F, Schwartz, A G, Schwartz, K L, Seow, A, Wendy Setiawan, V, Severi, G, Shen, H, Sheng, X, Shin, M H, Shu, X-O, Silverman, D T, Spitz, M R, Stevens, V L, Stolzenberg-Solomon, R, Stram, D O, Tang, Z Z, Taylor, P R, Teras, L R, Tobias, G S, Van Den Berg, D, Visvanathan, K, Wacholder, S, Wang, J C, Wang, Z, Wentzensen, N, Wheeler, W, White, E, Wiencke, J K, Wolpin, B M, Wong, M P, Wu, C, Wu, T, Wu, X, Wu, Y L, Wunder, J S, Xia, L, Yang, H P, Yang, P C, Yu, K, Zanetti, K A, Zeleniuch-Jacquotte, A, Zheng, W, Zhou, B, Ziegler, R G, Perez-Jurado, L A, Caporaso, N E, Rothman, N, Tucker, M A, Dean, M C, Yeager, M & Chanock, S J 2016, ' Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome ', Nature Communications, vol. 7, 11843 . https://doi.org/10.1038/ncomms11843, Nature Communications, Vol 7, Iss 1, Pp 1-9 (2016), Machiela, Mitchell J; Zhou, Weiyin; Karlins, Eric; Sampson, Joshua N; Freedman, Neal D; Yang, Qi; et al.(2016). Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. NATURE COMMUNICATIONS, 7. doi: 10.1038/ncomms118431. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/1nv5x0k2, Recercat. Dipósit de la Recerca de Catalunya, instname, Machiela, M J, Zhou, W, Karlins, E, Sampson, J N, Freedman, N D, Yang, Q, Hicks, B, Dagnall, C, Hautman, C, Jacobs, K B, Abnet, C C, Aldrich, M C, Amos, C, Amundadottir, L T, Arslan, A A, Beane-Freeman, L E, Berndt, S I, Black, A, Blot, W J, Bock, C H, Bracci, P M, Brinton, L A, Bueno-de-Mesquita, H B, Burdett, L, Buring, J E, Butler, M A, Canzian, F, Carreón, T, Chaffee, K G, Chang, I-S, Chatterjee, N, Chen, C, Chen, C, Chen, K, Chung, C C, Cook, L S, Crous Bou, M, Cullen, M, Davis, F G, De Vivo, I, Ding, T, Doherty, J, Duell, E J, Epstein, C G, Fan, J-H, Figueroa, J D, Fraumeni, J F, Friedenreich, C M, Fuchs, C S, Gallinger, S, Gao, Y-T, Gapstur, S M, Garcia-Closas, M, Gaudet, M M, Gaziano, J M, Giles, G G, Gillanders, E M, Giovannucci, E L, Goldin, L, Goldstein, A M, Haiman, C A, Hallmans, G, Hankinson, S E, Harris, C C, Henriksson, R, Holly, E A, Hong, Y-C, Hoover, R N, Hsiung, C A, Hu, N, Hu, W, Hunter, D J, Hutchinson, A, Jenab, M, Johansen, C, Khaw, K-T, Kim, H N, Kim, Y H, Kim, Y T, Klein, A P, Klein, R, Koh, W-P, Kolonel, L N, Kooperberg, C, Kraft, P, Krogh, V, Kurtz, R C, LaCroix, A, Lan, Q, Landi, M T, Marchand, L L, Li, D, Liang, X, Liao, L M, Lin, D, Liu, J, Lissowska, J, Lu, L, Magliocco, A M, Malats, N, Matsuo, K, McNeill, L H, McWilliams, R R, Melin, B S, Mirabello, L, Moore, L, Olson, S H, Orlow, I, Park, J Y, Patiño-Garcia, A, Peplonska, B, Peters, U, Petersen, G M, Pooler, L, Prescott, J, Prokunina-Olsson, L, Purdue, M P, Qiao, Y-L, Rajaraman, P, Real, F X, Riboli, E, Risch, H A, Rodriguez-Santiago, B, Ruder, A M, Savage, S A, Schumacher, F, Schwartz, A G, Schwartz, K L, Seow, A, Wendy Setiawan, V, Severi, G, Shen, H, Sheng, X, Shin, M-H, Shu, X-O, Silverman, D T, Spitz, M R, Stevens, V L, Stolzenberg-Solomon, R, Stram, D, Tang, Z-Z, Taylor, P R, Teras, L R, Tobias, G S, Van Den Berg, D, Visvanathan, K, Wacholder, S, Wang, J-C, Wang, Z, Wentzensen, N, Wheeler, W, White, E, Wiencke, J K, Wolpin, B M, Wong, M P, Wu, C, Wu, T, Wu, X, Wu, Y-L, Wunder, J S, Xia, L, Yang, H P, Yang, P-C, Yu, K, Zanetti, K A, Zeleniuch-Jacquotte, A, Zheng, W, Zhou, B, Ziegler, R G, Perez-Jurado, L A, Caporaso, N E, Rothman, N, Tucker, M, Dean, M C, Yeager, M & Chanock, S J 2016, ' Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome ', Nature Communications, vol. 7, pp. 11843 . https://doi.org/10.1038/ncomms11843, Repisalud, Instituto de Salud Carlos III (ISCIII), Nature Communications
- Accession number :
- edsair.doi.dedup.....c86c182f9af4f3394861a7268593c8f5