83131 IMGP3204
Nijmegen syndrome
The NBS1 gcnc producł, has bcen found to internet v»ith at
lea.it 2 other proteina: HMreli and Kad50.
Thcse proteina are putatiycly inrohed in processing DNA doublc-strand breaks (DSBs) both indured by IR or norami processes sucli as mciotic rccombination and mitotic variablc-diversity-joining (VI)J) rearrangement in maturing lymphocyfes.
liecause thesc key regulatory processes are dcfcctivc in the eclls of patients with NBS, chromosomal aberrations accumulatc, and inununodeficicncy and gonadal failurc occur.
Uowerer, specific molceuJar pathogenesis and gcnc function during organ dcvclopmcnt atrait further clucidation.
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