Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Sissy BassaniJacqueline ChrastGiovanna AmbrosiniNorine VoisinFrédéric SchützAlfredo BruscoFabio SirchiaLydia TurbanSusanna SchubertRami Abou JamraJan-Ulrich SchlumpDesiree DeMillePinar Bayrak-ToydemirGary Rex NelsonKristen Nicole WongLaura DuncanMackenzie MoseraChristian GilissenLisenka E L M VissersRolph PfundtRogier KersseboomHilde YttervikGeir Åsmund Myge HansenMarie Falkenberg SmelandKameryn M ButlerMichael J LyonsClaudia M B CarvalhoChaofan ZhangJames R LupskiLorraine PotockiLeticia Flores-GallegosRodrigo Morales-ToqueroFlorence PetitBinnaz YalcinAnnabelle TuttleHouda Zghal ElloumiLane McCormickMary KukolichOliver KlaasJudit HorvathMarcello ScalaMichele IacominoFrancesca OpertoFederico ZaraKarin WritzlAleš MaverMaria K HaanpääPia PohjolaHarri ArikkaAnneke J A KievitCamilla CalandriniChristian IseliNicolas GuexAlexandre ReymondPublished in: Genome medicine (2024)
Our results and the high pleiotropy shown by variation at this locus suggest that minute changes in AFF3 function are deleterious.