Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome.
BMC Res Notes
; 17(1): 228, 2024 Aug 16.
Article
em En
| MEDLINE
| ID: mdl-39152498
ABSTRACT
OBJECTIVES:
Cox10 is an enzyme required for the activity of cytochrome c oxidase. Humans who lack at least one functional copy of Cox10 have a form of Leigh Syndrome, a genetic disease that is usually fatal in infancy. As more human genomes are sequenced, new alleles are being discovered; whether or not these alleles encode functional proteins remains unclear. Thus, we set out to measure the phenotypes of many human Cox10 variants by expressing them in yeast cells.RESULTS:
We successfully expressed the reference sequence and 25 variants of human Cox10 in yeast. We quantitated the ability of these variants to support growth on nonfermentable media and directly measured cytochrome c oxidase activity. 11 of these Cox10 variants supported approximately half or more the cytochrome c oxidase activity compared to the reference sequence. All of the strains containing those 11 variants also grew robustly using a nonfermentable carbon source. Cells expressing the other variants showed low cytochrome c oxidase activity and failed to grow on nonfermentable media.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Doença de Leigh
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Complexo IV da Cadeia de Transporte de Elétrons
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article