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@ARTICLE{Giorgio:136985,
      author       = {Giorgio, Elisa and Rolyan, Harshvardhan and Kropp, Laura
                      and Chakka, Anish Baswanth and Yatsenko, Svetlana and Di
                      Gregorio, Eleonora and Lacerenza, Daniela and Vaula,
                      Giovanna and Talarico, Flavia and Mandich, Paola and Toro,
                      Camilo and Pierre, Eleonore Eymard and Labauge, Pierre and
                      Capellari, Sabina and Cortelli, Pietro and Vairo, Filippo
                      Pinto and Miguel, Diego and Stubbolo, Danielle and Marques,
                      Lourenco Charles and Gahl, William and Boespflug-Tanguy,
                      Odile and Melberg, Atle and Hassin-Baer, Sharon and Cohen,
                      Oren S and Pjontek, Rastislav and Grau, Armin and Klopstock,
                      Thomas and Fogel, Brent and Meijer, Inge and Rouleau, Guy
                      and Bouchard, Jean-Pierre L and Ganapathiraju, Madhavi and
                      Vanderver, Adeline and Dahl, Niklas and Hobson, Grace and
                      Brusco, Alfredo and Brussino, Alessandro and Padiath, Quasar
                      Saleem},
      title        = {{A}nalysis of {LMNB}1 duplications in autosomal dominant
                      leukodystrophy provides insights into duplication mechanisms
                      and allele-specific expression.},
      journal      = {Human mutation},
      volume       = {34},
      number       = {8},
      issn         = {1059-7794},
      address      = {New York, NY [u.a.]},
      publisher    = {Wiley-Liss},
      reportid     = {DZNE-2020-03307},
      pages        = {1160-1171},
      year         = {2013},
      abstract     = {Autosomal dominant leukodystrophy (ADLD) is an adult onset
                      demyelinating disorder that is caused by duplications of the
                      lamin B1 (LMNB1) gene. However, as only a few cases have
                      been analyzed in detail, the mechanisms underlying LMNB1
                      duplications are unclear. We report the detailed molecular
                      analysis of the largest collection of ADLD families studied,
                      to date. We have identified the minimal duplicated region
                      necessary for the disease, defined all the duplication
                      junctions at the nucleotide level and identified the first
                      inverted LMNB1 duplication. We have demonstrated that the
                      duplications are not recurrent; patients with identical
                      duplications share the same haplotype, likely inherited from
                      a common founder and that the duplications originated from
                      intrachromosomal events. The duplication junction sequences
                      indicated that nonhomologous end joining or
                      replication-based mechanisms such fork stalling and template
                      switching or microhomology-mediated break induced repair are
                      likely to be involved. LMNB1 expression was increased in
                      patients' fibroblasts both at mRNA and protein levels and
                      the three LMNB1 alleles in ADLD patients show equal
                      expression, suggesting that regulatory regions are
                      maintained within the rearranged segment. These results have
                      allowed us to elucidate duplication mechanisms and provide
                      insights into allele-specific LMNB1 expression levels.},
      keywords     = {Adult / Base Sequence / Chromosome Breakpoints /
                      Comparative Genomic Hybridization / DNA: chemistry / DNA:
                      genetics / Gene Duplication / Humans / Lamin Type B:
                      genetics / Lamin Type B: metabolism / Molecular Sequence
                      Data / Nucleic Acid Conformation / Pelizaeus-Merzbacher
                      Disease: genetics / Pelizaeus-Merzbacher Disease: metabolism
                      / RNA, Messenger: genetics / RNA, Messenger: metabolism /
                      Lamin Type B (NLM Chemicals) / RNA, Messenger (NLM
                      Chemicals) / lamin B1 (NLM Chemicals) / DNA (NLM Chemicals)},
      cin          = {AG Levin},
      ddc          = {610},
      cid          = {I:(DE-2719)1111016},
      pnm          = {344 - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:23649844},
      pmc          = {pmc:PMC3714349},
      doi          = {10.1002/humu.22348},
      url          = {https://pub.dzne.de/record/136985},
}