ARSENEAULT, M., J. MONLONG, N.S. VASUDEV, R.S. LASKAR, M. SAFISAMGHABADI, P. HARNDEN, L. EGEVAD, N. NOURBEHESHT, P. PANICHNANTAKUL, I. HOLCATOVA, A. BRISUDA, V. JANOUT, H. KOLLAROVA, Lenka FORETOVÁ, M. NAVRATILOVA, D. MATES, V. JINGA, D. ZARIDZE, A. MUKERIA, P. JANDAGHI, P. BRENNAN, A. BRAZMA, J. TOST, G. SCELO, R.E. BANKS, M. LATHROP, G. BOURQUE and Y. RIAZALHOSSEINI. Loss of chromosome Y leads to down regulation of KDM5D and KDM6C epigenetic modifiers in clear cell renal cell carcinoma. Scientific Reports. LONDON: NATURE PUBLISHING GROUP, 2017, vol. 7, No 44876, p. 1-8. ISSN 2045-2322. Available from: https://dx.doi.org/10.1038/srep44876.
Other formats:   BibTeX LaTeX RIS
Basic information
Original name Loss of chromosome Y leads to down regulation of KDM5D and KDM6C epigenetic modifiers in clear cell renal cell carcinoma
Authors ARSENEAULT, M. (124 Canada), J. MONLONG (124 Canada), N.S. VASUDEV (124 Canada), R.S. LASKAR (124 Canada), M. SAFISAMGHABADI (124 Canada), P. HARNDEN (826 United Kingdom of Great Britain and Northern Ireland), L. EGEVAD (203 Czech Republic), N. NOURBEHESHT (124 Canada), P. PANICHNANTAKUL (826 United Kingdom of Great Britain and Northern Ireland), I. HOLCATOVA (826 United Kingdom of Great Britain and Northern Ireland), A. BRISUDA (124 Canada), V. JANOUT (124 Canada), H. KOLLAROVA (124 Canada), Lenka FORETOVÁ (203 Czech Republic, guarantor, belonging to the institution), M. NAVRATILOVA (203 Czech Republic), D. MATES (124 Canada), V. JINGA (124 Canada), D. ZARIDZE (56 Belgium), A. MUKERIA (56 Belgium), P. JANDAGHI (250 France), P. BRENNAN (203 Czech Republic), A. BRAZMA (643 Russian Federation), J. TOST (642 Romania), G. SCELO (124 Canada), R.E. BANKS (124 Canada), M. LATHROP (124 Canada), G. BOURQUE (124 Canada) and Y. RIAZALHOSSEINI (124 Canada).
Edition Scientific Reports, LONDON, NATURE PUBLISHING GROUP, 2017, 2045-2322.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30200 3.2 Clinical medicine
Country of publisher United Kingdom of Great Britain and Northern Ireland
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 4.122
RIV identification code RIV/00216224:14110/17:00098730
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1038/srep44876
UT WoS 000397186600001
Keywords in English KDM5D; KDM6C
Tags EL OK
Tags International impact, Reviewed
Changed by Changed by: Soňa Böhmová, učo 232884. Changed: 21/3/2018 16:19.
Abstract
Recent genomic studies of sporadic clear cell renal cell carcinoma (ccRCC) have uncovered novel driver genes and pathways. Given the unequal incidence rates among men and women (male:female incidence ratio approaches 2:1), we compared the genome-wide distribution of the chromosomal abnormalities in both sexes. We observed a higher frequency for the somatic recurrent chromosomal copy number variations (CNVs) of autosomes in male subjects, whereas somatic loss of chromosome X was detected exclusively in female patients (17.1%). Furthermore, somatic loss of chromosome Y (LOY) was detected in about 40% of male subjects, while mosaic LOY was detected in DNA isolated from peripheral blood in 9.6% of them, and was the only recurrent CNV in constitutional DNA samples. LOY in constitutional DNA, but not in tumor DNA was associated with older age. Amongst Y-linked genes that were downregulated due to LOY, KDM5D and KDM6C epigenetic modifiers have functionally-similar X-linked homologs whose deficiency is involved in ccRCC progression. Our findings establish somatic LOY as a highly recurrent genetic defect in ccRCC that leads to downregulation of hitherto unsuspected epigenetic factors, and suggest that different mechanisms may underlie the somatic and mosaic LOY observed in tumors and peripheral blood, respectively.
PrintDisplayed: 27/7/2024 20:35