Fig. 8: Schematic representation of EIF6 somatic genetic rescue (SGR) mechanisms in SDS.
From: Somatic genetic rescue of a germline ribosome assembly defect

Chromosomal alterations (interstitial 20q deletion, reciprocal translocation), somatic nonsense or small indel mutations may cause EIF6 hapoinsufficiency (denoted 1); other EIF6 somatic point mutations may reduce eIF6 protein expression/stability (denoted 2) or impair the interaction of eIF6 with 60S subunits (denoted 3).