The results of the segregation analysis of hereditary adenomatous polyposis and primary cancer of the colon are given, taking into account the age-dependent manifestation of genotypes and the specificity of pedigree sampling. The results are used for testing the hypothesis of pleiotropic monogenic control of these two colon pathologies.
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Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address:
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medRxiv
August 2024
Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.
The mitoribosome synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders, and frequently show combined oxidative phosphorylation deficiency.
View Article and Find Full Text PDFShared etiology of Mendelian and complex disease supports drug discovery.
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