Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease

2017年7月27日 Human Genome Variation 4, Article number:17032 (2017) doi:10.1038/hgv.2017.32




Psychiatric disease: Non-heritable mutations may explain twin differences
A new gene mutation has been identified in a rare hereditary cancer syndrome. Akane Naruoka and colleagues at Shizuoka Cancer Center, Japan, analyzed genes in blood and tumor cells from a patient with multiple endocrine neoplasia type 1, which causes mainly benign tumors in various organs. They identified an inherited causative mutation in the gene MEN1, adding to the more than 600 already known. Although the patient's healthy cells contained only one copy of the mutation in the MEN1 pair of genes, tumor cells contained two copies of the mutation or only a single copy of the gene. Furthermore, malformed protein menin, encoded by mutated MEN1, strongly accumulated in the nuclei of tumor cells—suggesting possibility a considerable role for malformed menin in tumor generation.

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