Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c

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dc.contributor.authorSchwarz, Q.
dc.contributor.authorCox, T.
dc.contributor.organisationCentre for the Molecular Genetics of Development
dc.date.issued2002
dc.description.abstractWe have shown by ndirect immunofluorescence and enhanced green fluorescent protein fusions that a mammalian sequence exhibiting similar levels of homology to the two yeast heme lyases Cyc3p (holocytochrome c synthase; HCCS) and Cyt2p (holocytochrome c₁ synthase; HCC₁S) is also targeted to mitochondria. The human protein was able to complement the yeast Cyc3p (but not Cyt2p) deficiency, which indicates that it specifically activates apocytochrome c. Consistent with a respiratory role, expression of the mammalian gene was detected in all tissues, with the highest levels found in heart. Notably, the human gene HCCS is the only known gene located within the critical region for the deletion-defined disorder microphthalmia with linear skin defects (MLS). We believe the spectrum of clinical features seen in females with MLS and the paucity of male patients are consistent with significant involvement of HCCS. Toward clarification of a role for HCCS in disease, we have extensively characterized the X-linked mouse Hccs genomic locus, showing conservation in gene size and arrangement despite its location in a region that has undergone significant evolutionary rearrangement.
dc.description.urihttp://www.sciencedirect.com/science/journal/08887543
dc.identifier.citationGenomics, 2002; 79(1):51-57
dc.identifier.doi10.1006/geno.2001.6677
dc.identifier.issn0888-7543
dc.identifier.issn1089-8646
dc.identifier.urihttp://hdl.handle.net/2440/28144
dc.language.isoen
dc.publisherAcademic Press Inc
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/997706
dc.source.urihttps://doi.org/10.1006/geno.2001.6677
dc.subjectCOS Cells
dc.subjectHela Cells
dc.subject3T3 Cells
dc.subjectX Chromosome
dc.subjectAnimals
dc.subjectHumans
dc.subjectMice
dc.subjectSaccharomyces cerevisiae
dc.subjectMicrophthalmos
dc.subjectCytochrome c Group
dc.subjectCytochromes c
dc.subjectLyases
dc.subjectApoproteins
dc.subjectMitochondrial Proteins
dc.subjectEnzyme Activators
dc.subjectSequence Alignment
dc.subjectEvolution, Molecular
dc.subjectAmino Acid Sequence
dc.subjectSequence Homology
dc.subjectMolecular Sequence Data
dc.subjectFemale
dc.subjectMale
dc.subjectGenetic Linkage
dc.titleComplementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c
dc.typeJournal article
pubs.publication-statusPublished

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