Genetic drivers and cellular selection of female mosaic X chromosome loss – Nature.com

Posted: June 17, 2024 at 2:43 am

Machiela, M. J. et al. Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. Nat. Commun. 7, 11843 (2016).

Article CAS PubMed PubMed Central ADS Google Scholar

Zekavat, S. M. et al. Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. Nat. Med. 27, 10121024 (2021).

Article CAS PubMed PubMed Central Google Scholar

Brown, C. J. et al. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349, 3844 (1991).

Article CAS PubMed ADS Google Scholar

Lyon, M. F. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190, 372373 (1961).

Article CAS PubMed ADS Google Scholar

Tukiainen, T. et al. Landscape of X chromosome inactivation across human tissues. Nature 550, 244248 (2017).

Article PubMed PubMed Central ADS Google Scholar

Busque, L. et al. Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. Blood 88, 5965 (1996).

Article CAS PubMed Google Scholar

Gale, R. E. & Linch, D. C. Interpretation of X-chromosome inactivation patterns. Blood 84, 23762378 (1994).

Article CAS PubMed Google Scholar

Zito, A. et al. Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age. Nat. Commun. 10, 5339 (2019).

Article PubMed PubMed Central ADS Google Scholar

Forsberg, L. A. et al. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat. Genet. 46, 624628 (2014).

Article CAS PubMed PubMed Central Google Scholar

Dumanski, J. P. et al. Smoking is associated with mosaic loss of chromosome Y. Science 347, 8183 (2015).

Article CAS PubMed ADS Google Scholar

Zhou, W. et al. Mosaic loss of chromosome Y is associated with common variation near TCL1A. Nat. Genet. 48, 563568 (2016).

Article CAS PubMed PubMed Central Google Scholar

Wright, D. J. et al. Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility. Nat. Genet. 49, 674679 (2017).

Article CAS PubMed PubMed Central Google Scholar

Thompson, D. J. et al. Genetic predisposition to mosaic Y chromosome loss in blood. Nature 575, 652657 (2019).

Article CAS PubMed PubMed Central Google Scholar

Loh, P. R. et al. Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. Nature 559, 350355 (2018).

Article CAS PubMed PubMed Central ADS Google Scholar

Lin, S. H. et al. Incident disease associations with mosaic chromosomal alterations on autosomes, X and Y chromosomes: insights from a phenome-wide association study in the UK Biobank. Cell Biosci.11, 111 (2021).

Article Google Scholar

Zhou, W. et al. Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes. Sci. Rep. 11, 1193 (2021).

Article CAS PubMed PubMed Central Google Scholar

Sybert, V. P. & McCauley, E. Turners syndrome. N. Engl. J. Med. 351, 12271238 (2004).

Article CAS PubMed Google Scholar

Jger, N. et al. Hypermutation of the inactive X chromosome is a frequent event in cancer. Cell 155, 567581 (2013).

Article PubMed PubMed Central Google Scholar

Koren, A. & McCarroll, S. A. Random replication of the inactive X chromosome. Genome Res. 24, 6469 (2014).

Article CAS PubMed PubMed Central Google Scholar

Kessler, M. D. et al. Common and rare variant associations with clonal haematopoiesis phenotypes. Nature 612, 301309 (2022).

Article CAS PubMed PubMed Central ADS Google Scholar

Terao, C. et al. GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation. Nat. Commun. 10, 4719 (2019).

Article CAS PubMed PubMed Central ADS Google Scholar

Kurki, M. I. et al. FinnGen provides genetic insights from a well-phenotyped isolated population. Nature 613, 508518 (2023).

Article CAS PubMed PubMed Central ADS Google Scholar

Leitsalu, L. et al. Cohort profile: Estonian biobank of the Estonian genome center, University of Tartu. Int. J. Epidemiol. 44, 11371147 (2015).

Article PubMed Google Scholar

Sudlow, C. et al. UK Biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med. 12, e1001779 (2015).

Article PubMed PubMed Central Google Scholar

Bycroft, C. et al. The UK Biobank resource with deep phenotyping and genomic data. Nature 562, 203209 (2018).

Article CAS PubMed PubMed Central ADS Google Scholar

Michailidou, K. et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat. Genet. 45, 353361 (2013).

Article CAS PubMed PubMed Central Google Scholar

Michailidou, K. et al. Association analysis identifies 65 new breast cancer risk loci. Nature 551, 9294 (2017).

Article CAS PubMed PubMed Central ADS Google Scholar

Gaziano, J. M. et al. Million Veteran Program: a mega-biobank to study genetic influences on health and disease. J. Clin. Epidemiol. 70, 214223 (2016).

Article PubMed Google Scholar

Hunter-Zinck, H. et al. Genotyping array design and data quality control in the Million Veteran Program. Am. J. Hum. Genet. 106, 535548 (2020).

Article CAS PubMed PubMed Central Google Scholar

Karlson, E. W., Boutin, N. T., Hoffnagle, A. G. & Allen, N. L. Building the partners healthcare biobank at partners personalized medicine: informed consent, return of research results, recruitment lessons and operational considerations. J. Pers. Med. 6, 2 (2016).

Article PubMed PubMed Central Google Scholar

Boutin, N. T. et al. The evolution of a large biobank at Mass General Brigham. J. Pers. Med. 12, 1323 (2022).

Article PubMed PubMed Central Google Scholar

Machiela, M. et al. GWAS Explorer: an open-source tool to explore, visualize, and access GWAS summary statistics in the PLCO Atlas. Sci. Data 10, 25 (2023).

Article PubMed PubMed Central Google Scholar

Nagai, A. et al. Overview of the BioBank Japan project: study design and profile. J. Epidemiol. 27, S2S8 (2017).

Article PubMed PubMed Central Google Scholar

Vlasschaert, C. et al. A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic datasets. Blood 141, 22142223 (2023).

CAS PubMed PubMed Central Google Scholar

Vuckovic, D. et al. The polygenic and monogenic basis of blood traits and diseases. Cell 182, 12141231 (2020).

Article CAS PubMed PubMed Central Google Scholar

Frampton, M. et al. Variation at 3p24. 1 and 6q23. 3 influences the risk of Hodgkins lymphoma. Nat. Commun. 4, 2549 (2013).

Article PubMed ADS Google Scholar

Berndt, S. I. et al. Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. Nat. Commun. 7, 10933 (2016).

Article CAS PubMed PubMed Central ADS Google Scholar

Celik, H. et al. JARID2 functions as a tumor suppressor in myeloid neoplasms by repressing self-renewal in hematopoietic progenitor cells. Cancer Cell 34, 741756 (2018).

Article CAS PubMed PubMed Central Google Scholar

Pattabiraman, D. R. & Gonda, T. J. Role and potential for therapeutic targeting of MYB in leukemia. Leukemia 27, 269277 (2013).

Article CAS PubMed Google Scholar

Schaffner, C., Stilgenbauer, S., Rappold, G. A., Dhner, H. & Lichter, P. Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia. Blood 94, 748753 (1999).

Article CAS PubMed Google Scholar

Zenz, T. et al. TP53 mutation and survival in chronic lymphocytic leukemia. J. Clin. Oncol. 28, 44734479 (2010).

Article PubMed Google Scholar

Catalano, A. et al. The PRKAR1A gene is fused to RARA in a new variant acute promyelocytic leukemia. Blood 110, 40734076 (2007).

Article CAS PubMed Google Scholar

Loh, P. R., Genovese, G. & McCarroll, S. A. Monogenic and polygenic inheritance become instruments for clonal selection. Nature 584, 136141 (2020).

Article CAS PubMed PubMed Central ADS Google Scholar

Luo, Y. et al. A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response. Nat. Genet. 53, 15041516 (2021).

Article CAS PubMed PubMed Central Google Scholar

Ritari, J., Koskela, S., Hyvrinen, K. & Partanen, J. HLA-disease association and pleiotropy landscape in over 235,000 Finns. Hum. Immunol. 83, 391398 (2022).

Article CAS PubMed Google Scholar

Bao, E. L. et al. Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells. Nature 586, 769775 (2020).

Article CAS PubMed PubMed Central ADS Google Scholar

Li, X. et al. Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. Nat. Genet. 52, 969983 (2020).

Article CAS PubMed PubMed Central Google Scholar

Zhou, W. et al. SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests. Nat. Genet. 54, 14661469 (2022).

Article CAS PubMed PubMed Central Google Scholar

Chiorazzi, M. et al. Related F-box proteins control cell death in Caenorhabditis elegans and human lymphoma. Proc. Natl Acad. Sci. USA 110, 39433948 (2013).

Article CAS PubMed PubMed Central ADS Google Scholar

Spielman, R. S., McGinnis, R. E. & Ewens, W. J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet. 52, 506 (1993).

CAS PubMed PubMed Central Google Scholar

Read the original here:
Genetic drivers and cellular selection of female mosaic X chromosome loss - Nature.com

Related Posts

Comments are closed.

Archives