TMCO3, a Putative K+:Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans
Authors' conclusion
Collectively, our data demonstrate that loss of TMCO3 causes growth defects in both humans and mice.
Study context
- Population
- Two sisters with isolated short stature carrying homozygous TMCO3 nonsense variant c.1832G>A/p.(Trp611*), their family; HeLa and ATDC5 cells; mouse and minipig growth plates; Tmco3 knockout micetwo sisters
- Outcome
- TMCO3 variant, expression and function in isolated short stature (humans) and long bone length (mice)
Methodological detailsexome sequencing, family segregation, in vitro cell studies, knockout mouse model, homology modeling
- Exome sequencing
- Family segregation
- In vitro cell studies
- Knockout mouse model
- Homology modeling
Main finding
As reported in the abstract
TMCO3 transcript levels in leukocyte-derived RNA of both sisters vs controls
reduced by ≈50%
Original publication
TMCO3, a Putative K+:Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans. J Bone Miner Res. Published 9 August 2023. doi:10.
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