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The authors identify the zinc finger protein Zfp106 as a specific GGGGCC RNA repeat-binding protein, and using affinity purification-mass spectrometry, they show that Zfp106 interacts with multiple other RNA binding proteins, including the amyotrophic lateral sclerosis-associated factors TDP-43 (show TARDBP Proteins) and FUS (show FUS Proteins).
Findings indicate a central role for Zfp106 in the maintenance of nerve-muscle signaling.
Zfp106-/- mice develop severe gait and motor abnormalities that deteriorate with age. The motor abnormalities exhibited by Zfp106-/- mice are likely due to a severe progressive adult-onset degenerative sensory-motor axonopathy.
ZFP106 is a novel factor regulating transcription initiation by targeting RNA polymerase I (show POLR1C Proteins) to the promoter.
kyphoscoliosis peptidase (Ky), which plays a vital role in muscle growth, was also up-regulated in the transgenic mice.
KY, IGFN1 and FLNC (show FLNC Proteins) are part of a Z-band associated protein complex likely to provide structural support to the skeletal muscle sarcomere.
Changes in expression of MLP (show MARCKSL1 Proteins), MARP2 and Xin have been related to the onset of dystrophic and adaptive changes that operate in ky/ky muscles
ZFP106 is a potential player in a novel pathway involved in testis development
This study shown Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects in two bother.
May play a role in modulating tissue specificity to insulin (isoform 3).