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The authors show that the defect in mitoribosomal assembly is a consequence of the accumulation of ERAL1, a putative 12S rRNA chaperone, and novel ClpXP substrate.
Three women from three different families presented with signs of PS, including deafness and ovarian dysgenesis. We employed exome sequencing and identified a homozygous missense mutation in the ERAL1 gene, c.707A > T. The mutation leads to a damaging p.Asn236Ile substitution that is likely to interfere with the GTP binding capacity of the ERAL1 protein.
Data show that loss of ERAL1 leads to rapid decay of nascent 12S mt-rRNA, consistent with a role as a mitochondrial RNA chaperone.
Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly.
Era G-protein-like 1 (E. coli)
, GTP-binding protein era homolog-like
, GTP-binding protein era homolog
, ERA-like GTPase
, ERA-like protein 1
, GTPase Era, mitochondrial
, conserved ERA-like GTPase
, Era-like 1
, Era G-protein-like 1
, GTPase, human homolog of E. coli essential cell cycle protein Era
, era (E. coli G-protein homolog)-like 1
, Era (G-protein)-like 1