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Proteome analysis of cblX syndrome

ABSTRACT: CblX is a recently described X-linked variant of vitamin B12 (cobalamin) deficiency cblC type. While cblC is due to mutations in MMACHC, an enzyme in the cobalamin metabolic pathway, cblX is caused by mutations in the transcriptional cofactor HCFC1 and its obligate transcription factor partner RONIN. Since HCFC1 and RONIN jointly regulate MMACHC transcription, cblX patients suffer from low levels of MMACHC during development and thus develop a disease highly similar to cblC. Beyond this finding, there is little else known about the other genes de-regulated in cblX and the resulting pathophysiology. Therefore, we have generated a Ronin point mutation mouse model, which carries the same missense mutation observed in a cblX patient. We have found that our cblX mice exhibit several defects typically observed in cblC patients. To further discover the proteomic changes in cblX mice, we collected mouse embryonic fibroblasts (MEFs) and performed mass spectrometry experiments.

INSTRUMENT(S): Orbitrap Fusion

ORGANISM(S): Mus Musculus (ncbitaxon:10090)

SUBMITTER: Ross Poche

PROVIDER: MSV000086402 | MassIVE | Tue Nov 03 04:29:00 GMT 2020

SECONDARY ACCESSION(S): PXD022310

REPOSITORIES: MassIVE

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