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@ARTICLE{Unger:897098,
      author       = {Unger, Nina and Heim, Stefan and Hilger, Dominique I. and
                      Bludau, Sebastian and Pieperhoff, Peter and Cichon, Sven and
                      Amunts, Katrin and Mühleisen, Thomas W.},
      title        = {{I}dentification of {P}honology-{R}elated {G}enes and
                      {F}unctional {C}haracterization of {B}roca’s and
                      {W}ernicke’s {R}egions in {L}anguage and {L}earning
                      {D}isorders},
      journal      = {Frontiers in neuroscience},
      volume       = {15},
      issn         = {1662-453X},
      address      = {Lausanne},
      publisher    = {Frontiers Research Foundation},
      reportid     = {FZJ-2021-03597},
      pages        = {680762},
      year         = {2021},
      abstract     = {Impaired phonological processing is a leading symptom of
                      multifactorial language and learning disorders suggesting a
                      common biological basis. Here we evaluated studies of
                      dyslexia, dyscalculia, specific language impairment (SLI),
                      and the logopenic variant of primary progressive aphasia
                      (lvPPA) seeking for shared risk genes in Broca’s and
                      Wernicke’s regions, being key for phonological processing
                      within the complex language network. The identified
                      “phonology-related genes” from literature were
                      functionally characterized using Atlas-based expression
                      mapping (JuGEx) and gene set enrichment. Out of 643
                      publications from the last decade until now, we extracted 21
                      candidate genes of which 13 overlapped with dyslexia and
                      SLI, six with dyslexia and dyscalculia, and two with
                      dyslexia, dyscalculia, and SLI. No overlap was observed
                      between the childhood disorders and the late-onset lvPPA
                      often showing symptoms of learning disorders earlier in
                      life. Multiple genes were enriched in Gene Ontology terms of
                      the topics learning (CNTNAP2, CYFIP1, DCDC2, DNAAF4, FOXP2)
                      and neuronal development (CCDC136, CNTNAP2, CYFIP1, DCDC2,
                      KIAA0319, RBFOX2, ROBO1). Twelve genes showed above-average
                      expression across both regions indicating moderate-to-high
                      gene activity in the investigated cortical part of the
                      language network. Of these, three genes were differentially
                      expressed suggesting potential regional specializations:
                      ATP2C2 was upregulated in Broca’s region, while DNAAF4 and
                      FOXP2 were upregulated in Wernicke’s region. ATP2C2
                      encodes a magnesium-dependent calcium transporter which fits
                      with reports about disturbed calcium and magnesium levels
                      for dyslexia and other communication disorders. DNAAF4
                      (formerly known as DYX1C1) is involved in neuronal migration
                      supporting the hypothesis of disturbed migration in
                      dyslexia. FOXP2 is a transcription factor that regulates a
                      number of genes involved in development of speech and
                      language. Overall, our interdisciplinary and multi-tiered
                      approach provided evidence that genetic and transcriptional
                      variation of ATP2C2, DNAAF4, and FOXP2 may play a role in
                      physiological and pathological aspects of phonological
                      processing.},
      cin          = {INM-1},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-1-20090406},
      pnm          = {5251 - Multilevel Brain Organization and Variability
                      (POF4-525) / HBP SGA3 - Human Brain Project Specific Grant
                      Agreement 3 (945539) / HBP SGA2 - Human Brain Project
                      Specific Grant Agreement 2 (785907)},
      pid          = {G:(DE-HGF)POF4-5251 / G:(EU-Grant)945539 /
                      G:(EU-Grant)785907},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34539327},
      UT           = {WOS:000696705800001},
      doi          = {10.3389/fnins.2021.680762},
      url          = {https://juser.fz-juelich.de/record/897098},
}