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The 11-year-old boy with Meier-Gorlin syndrome (MGS) has a homozygous mutation in origin recognition complex, subunit 6 (ORC6) gene mapped to chromosome 16, and his father with heterozygote carrier of ORC6 gene.
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The present report expands the clinical phenotype associated with ORC6 mutations to include severely abnormal embryological development suggesting a possible genotype-phenotype correlation.
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our results suggest that Meier-Gorlin syndrome mutations in Orc6 impair the formation of ORC hexamers, interfering with appropriate ORC functions
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findings show that Orc6 not only interacts with Orc1-Orc5 but also with the initiation factor Cdc6, and that Orc6 functions at different stages of the replication initiation process.
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Structural analysis of human Orc6 protein reveals a homology with transcription factor TFIIB.
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results implicate Orc6 as an essential gene that coordinates chromosome replication and segregation with cytokinesis
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Study using HCT116 haplo-insufficient cells and Orc2 hypomorphic cells demonstrates that the binding of human Ku to replication origins precedes that of Orc-3, -4, and -6 subunit binding.
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Orc6 has a role in sensitizing human colon cancer cells to 5-fluorouracil and cisplatin
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In a cross-species complementation experiment, the expression of human Orc6 in Drosophila Orc6 mutant cells rescued DNA replication, suggesting that this function of the protein is conserved among metazoans.
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Functional studies of the Drosophila homolog
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Functional studies of the yeast homolog