@article{GomezHFelipeMedinaSanchezMartinetal.2016,
  author    = {Gom{\´e}z-H, Laura and Felipe-Medina, Natalia and S{\´a}nchez-Mart{\´i}n, Manuel and Davies, Owen R. and Ramos, Isabel and Garc{\´i}a-Tu{\~n}{\´o}n, Ignacio and de Rooij, Dirk G. and Dereli, Ihsan and T{\´o}th, Attila and Barbero, Jos{\´e} Luis and Benavente, Ricardo and Llano, Elena and Pendas, Alberto M.},
  title     = {C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility},
  series = {Nature Communications},
  volume    = {7},
  journal   = {Nature Communications},
  doi       = {10.1038/ncomms13298},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-165907},
  pages     = {13298},
  year      = {2016},
  abstract  = {Meiotic recombination generates crossovers between homologous chromosomes that are essential for genome haploidization. The synaptonemal complex is a 'zipper'-like protein assembly that synapses homologue pairs together and provides the structural framework for processing recombination sites into crossovers. Humans show individual differences in the number of crossovers generated across the genome. Recently, an anonymous gene variant in C14ORF39/SIX6OS1 was identified that influences the recombination rate in humans. Here we show that C14ORF39/SIX6OS1 encodes a component of the central element of the synaptonemal complex. Yeast two-hybrid analysis reveals that SIX6OS1 interacts with the well-established protein synaptonemal complex central element 1 (SYCE1). Mice lacking SIX6OS1 are defective in chromosome synapsis at meiotic prophase I, which provokes an arrest at the pachytene-like stage and results in infertility. In accordance with its role as a modifier of the human recombination rate, SIX6OS1 is essential for the appropriate processing of intermediate recombination nodules before crossover formation.},
  language  = {en}
}
@article{DunceMilburnGurusaranetal.2018,
  author    = {Dunce, James M. and Milburn, Amy E. and Gurusaran, Manickam and da Cruz, Irene and Sen, Lee T. and Benavente, Ricardo and Davies, Owen R.},
  title     = {Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1},
  series = {Nature Communications},
  volume    = {9},
  journal   = {Nature Communications},
  doi       = {10.1038/s41467-018-07794-7},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-226416},
  year      = {2018},
  abstract  = {Meiotic chromosomes undergo rapid prophase movements, which are thought to facilitate the formation of inter-homologue recombination intermediates that underlie synapsis, crossing over and segregation. The meiotic telomere complex (MAJIN, TERB1, TERB2) tethers telomere ends to the nuclear envelope and transmits cytoskeletal forces via the LINC complex to drive these rapid movements. Here, we report the molecular architecture of the meiotic telomere complex through the crystal structure of MAJIN-TERB2, together with light and X-ray scattering studies of wider complexes. The MAJIN-TERB2 2:2 hetero-tetramer binds strongly to DNA and is tethered through long flexible linkers to the inner nuclear membrane and two TRF1-binding 1:1 TERB2-TERB1 complexes. Our complementary structured illumination microscopy studies and biochemical findings reveal a telomere attachment mechanism in which MAJIN-TERB2-TERB1 recruits telomere-bound TRF1, which is then displaced during pachytene, allowing MAJIN-TERB2-TERB1 to bind telomeric DNA and form a mature attachment plate.},
  language  = {en}
}
@article{WentSudSpeedyetal.2018,
  author    = {Went, Molly and Sud, Amit and Speedy, Helen and Sunter, Nicola J. and F{\"o}rsti, Asta and Law, Philip J. and Johnson, David C. and Mirabella, Fabio and Holroyd, Amy and Li, Ni and Orlando, Giulia and Weinhold, Niels and van Duin, Mark and Chen, Bowang and Mitchell, Jonathan S. and Mansouri, Larry and Juliusson, Gunnar and Smedby, Karin E and Jayne, Sandrine and Majid, Aneela and Dearden, Claire and Allsup, David J. and Bailey, James R. and Pratt, Guy and Pepper, Chris and Fegan, Chris and Rosenquist, Richard and Kuiper, Rowan and Stephens, Owen W. and Bertsch, Uta and Broderick, Peter and Einsele, Hermann and Gregory, Walter M. and Hillengass, Jens and Hoffmann, Per and Jackson, Graham H. and J{\"o}ckel, Karl-Heinz and Nickel, Jolanta and N{\"o}then, Markus M. and da Silva Filho, Miguel Inacio and Thomsen, Hauke and Walker, Brian A. and Broyl, Annemiek and Davies, Faith E. and Hansson, Markus and Goldschmidt, Hartmut and Dyer, Martin J. S. and Kaiser, Martin and Sonneveld, Pieter and Morgan, Gareth J. and Hemminki, Kari and Nilsson, Bj{\"o}rn and Catovsky, Daniel and Allan, James M. and Houlston, Richard S.},
  title     = {Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology},
  series = {Blood Cancer Journal},
  volume    = {9},
  journal   = {Blood Cancer Journal},
  doi       = {10.1038/s41408-018-0162-8},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-233627},
  year      = {2018},
  abstract  = {The clustering of different types of B-cell malignancies in families raises the possibility of shared aetiology. To examine this, we performed cross-trait linkage disequilibrium (LD)-score regression of multiple myeloma (MM) and chronic lymphocytic leukaemia (CLL) genome-wide association study (GWAS) data sets, totalling 11,734 cases and 29,468 controls. A significant genetic correlation between these two B-cell malignancies was shown (Rg = 0.4, P = 0.0046). Furthermore, four of the 45 known CLL risk loci were shown to associate with MM risk and five of the 23 known MM risk loci associate with CLL risk. By integrating eQTL, Hi-C and ChIP-seq data, we show that these pleiotropic risk loci are enriched for B-cell regulatory elements and implicate B-cell developmental genes. These data identify shared biological pathways influencing the development of CLL and, MM and further our understanding of the aetiological basis of these B-cell malignancies.},
  language  = {en}
}