% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Liu:295920,
      author       = {A. Liu and G. Genovese and Y. Zhao and M. Pirinen and S. M.
                      Zekavat and K. A. Kentistou and Z. Yang and K. Yu and C.
                      Vlasschaert and X. Liu and D. W. Brown and G. Hudjashov and
                      B. R. Gorman and J. Dennis and W. Zhou and Y. Momozawa and
                      S. Pyarajan and V. Tuzov and F.-D. Pajuste and M. Aavikko
                      and T. P. Sipilä and A. Ghazal and W.-Y. Huang and N. D.
                      Freedman and L. Song and E. J. Gardner and V. G. Sankaran
                      and A. Palotie and H. M. Ollila and T. Tukiainen and S. J.
                      Chanock and R. Mägi and P. Natarajan and M. J. Daly and A.
                      Bick and S. A. McCarroll and C. Terao and P.-R. Loh and A.
                      Ganna and J. R. B. Perry and M. J. Machiela},
      collaboration = {FinnGen and E. B. R. Team and B. C. A. Consortium and M. V.
                      Program},
      othercontributors = {A. Metspalu and T. Esko and M. Nelis and L. Milani and T.
                          U. Ahearn and I. L. Andrulis and H. Anton-Culver and A. C.
                          Antoniou and A. B. de Gonzalez and N. V. Bogdanova and S. E.
                          Bojesen and M. K. Bolla and H. Brenner$^*$ and J.
                          Chang-Claude$^*$ and G. Chenevix-Trench and S. V. Colonna
                          and F. J. Couch and A. Cox and K. Czene and M. B. Daly and
                          P. Devilee and T. Dörk and A. M. Dunning and M. Dwek and D.
                          F. Easton and D. M. Eccles and P. A. Fasching and O.
                          Fletcher and M. Gago-Dominguez and M. García-Closas and M.
                          S. Goldberg and A. González-Neira and P. Guénel and C. A.
                          Haiman and P. Hall and U. Hamann$^*$ and A. Hollestelle and
                          R. Hoppe and J. L. Hopper and A. Jakubowska and H.
                          Jernström and E. M. John and R. Kaaks$^*$ and E. K.
                          Khusnutdinova and C. M. Kitahara and P. Kraft and V. N.
                          Kristensen and D. Lambrechts and A. Lindblom and A.
                          Mannermaa and U. Menon and K. Michailidou and R. A. Murphy
                          and H. Nevanlinna and N. Obi and K. Offit and P. Peterlongo
                          and P. D. P. Pharoah and D. Plaseska-Karanfilska and G.
                          Rennert and A. Romero and E. Saloustros and M. K. Schmidt
                          and R. K. Schmutzler and J. Stone and R. M. Tamimi and L. R.
                          Teras and M. B. Terry and M. A. Troester and C. M. Vachon
                          and Q. Wang and C. R. Weinberg and R. Winqvist and A. Wolk},
      title        = {{G}enetic drivers and cellular selection of female mosaic
                      {X} chromosome loss.},
      journal      = {Nature},
      volume       = {631},
      number       = {8019},
      issn         = {0028-0836},
      address      = {London [u.a.]},
      publisher    = {Nature Publ. Group},
      reportid     = {DKFZ-2024-02733},
      pages        = {134 - 141},
      year         = {2024},
      abstract     = {Mosaic loss of the X chromosome (mLOX) is the most common
                      clonal somatic alteration in leukocytes of female
                      individuals1,2, but little is known about its genetic
                      determinants or phenotypic consequences. Here, to address
                      this, we used data from 883,574 female participants across 8
                      biobanks; $12\%$ of participants exhibited detectable mLOX
                      in approximately $2\%$ of leukocytes. Female participants
                      with mLOX had an increased risk of myeloid and lymphoid
                      leukaemias. Genetic analyses identified 56 common variants
                      associated with mLOX, implicating genes with roles in
                      chromosomal missegregation, cancer predisposition and
                      autoimmune diseases. Exome-sequence analyses identified rare
                      missense variants in FBXO10 that confer a twofold increased
                      risk of mLOX. Only a small fraction of associations was
                      shared with mosaic Y chromosome loss, suggesting that
                      distinct biological processes drive formation and clonal
                      expansion of sex chromosome missegregation. Allelic shift
                      analyses identified X chromosome alleles that are
                      preferentially retained in mLOX, demonstrating variation at
                      many loci under cellular selection. A polygenic score
                      including 44 allelic shift loci correctly inferred the
                      retained X chromosomes in $80.7\%$ of mLOX cases in the top
                      decile. Our results support a model in which germline
                      variants predispose female individuals to acquiring mLOX,
                      with the allelic content of the X chromosome possibly
                      shaping the magnitude of clonal expansion.},
      keywords     = {Adult / Female / Humans / Male / Middle Aged / Alleles /
                      Aneuploidy / Autoimmune Diseases: genetics / Biological
                      Specimen Banks / Chromosome Segregation: genetics /
                      Chromosomes, Human, X: genetics / Chromosomes, Human, Y:
                      genetics / Clone Cells: metabolism / Clone Cells: pathology
                      / Exome: genetics / F-Box Proteins: genetics / Genetic
                      Predisposition to Disease: genetics / Germ-Line Mutation /
                      Leukemia: genetics / Leukocytes: metabolism / Models,
                      Genetic / Mosaicism / Multifactorial Inheritance: genetics /
                      Mutation, Missense: genetics / F-Box Proteins (NLM
                      Chemicals) / FBXO10 protein, human (NLM Chemicals)},
      cin          = {C070 / C120 / HD01 / C020 / B072},
      ddc          = {500},
      cid          = {I:(DE-He78)C070-20160331 / I:(DE-He78)C120-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)C020-20160331 /
                      I:(DE-He78)B072-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38867047},
      doi          = {10.1038/s41586-024-07533-7},
      url          = {https://inrepo02.dkfz.de/record/295920},
}