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Single-cell analysis reveals different age-related somatic mutation profiles between stem and differentiated cells in human liver

ABSTRACT: Single-cell analysis reveals different age-related somatic mutation profiles between stem and differentiated cells in human liver

PROVIDER: PRJNA597931 | ENA |

REPOSITORIES: ENA

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Single-cell analysis reveals different age-related somatic mutation profiles between stem and differentiated cells in human liver

Project description:Single-cell analysis reveals different age-related somatic mutation profiles between stem and differentiated cells in human liver

| PRJNA597930 | ENA

Single-cell analysis reveals different age-related somatic mutation profiles between stem and differentiated cells in human liver.

Project description:Accumulating somatic mutations have been implicated in age-related cellular degeneration and death. Because of their random nature and low abundance, somatic mutations are difficult to detect except in single cells or clonal cell lineages. Here, we show that in single hepatocytes from human liver, an organ exposed to high levels of genotoxic stress, somatic mutation frequencies are high and increase substantially with age. Considerably lower mutation frequencies were observed in liver stem cells (LSCs) and organoids derived from them. Mutational spectra in hepatocytes showed signatures of oxidative stress that were different in old age and in LSCs. A considerable number of mutations were found in functional parts of the liver genome, suggesting that somatic mutagenesis could causally contribute to the age-related functional decline and increased incidence of disease of human liver. These results underscore the importance of stem cells in maintaining genome sequence integrity in aging somatic tissues.

| S-EPMC6994209 | biostudies-literature

Lynch Syndrome Can be Diagnosed Just From Somatic Mismatch Repair Mutation

Project description:The objective of the study is the provide proof of high correlation between somatic and germline mismatch repair instability. This correlation is specifically researched in an area where patients have less access to cancer education and genetic testing for various reasons such as lack of insurance and general accessibility. The study concentrates on early diagnosis of Lynch syndrome. Lynch syndrome is usually diagnosed from a blood test resulting in a mutation of one of the mismatch repair genes. Those are MLH1, MSH2, MSH 6, PMS2. A mutation in one of these genes creates a mismatch repair instability,hence higher incidence of cancers in specific organ groups. Amongst these organs are the Uterus, Ovaries, Upper genitourinary system, Pancreas and GI system. The most common endometrial carcinoma which is found in Lynch syndrome is of endometrioid histology. Most patients with known germline mismatch repair instability, have the same somatic mutation. Our study is looking into correlating somatic mutation to germline mutation. By doing so, patients diagnosed with somatic mismatch repair instability will be also diagnosed with lynch syndrome without germline genetic testing. Screening programs will be utilized earlier and preventive procedures offered. Due to less access to educational programs, genetic counseling and testing in underserved areas, patients are sometimes lost to follow up. Our study seeks to prove high correlation between somatic and germline mutations and by doing so, patient will be diagnosed with Lynch syndrome straight after endometrial cancer staging. As a result, increased compliance will be expected and patients will be offered the recommended preventative surgeries and screening protocols.

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Somatic Mutation Screen of Clear Cell RCC

Project description:This SuperSeries is composed of the following subset Series: GSE17816: Somatic Mutation Screen of Clear Cell RCC I GSE17818: Somatic Mutation Screen of Clear Cell RCC II Systematic somatic mutation screening of 4000 genes in human clear cell renal cell carcinoma. Information on corresponding somatic mutations in each sample can be found at http://www.sanger.ac.uk/genetics/CGP/Studies/.

2010-05-16 | E-GEOD-17895 | biostudies-arrayexpress

Secondary mutation of a somatic BRCA2 mutation

Project description:Secondary mutation of a somatic BRCA2 mutation in an olaparib and carboplatin resistant ovarian tumour

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Somatic Mutation Screen of Clear Cell RCC II

2010-01-05 | GSE17818 | GEO

Somatic Mutation Screen of Clear Cell RCC II

Project description:Systematic somatic mutation screening of 4000 genes in human clear cell renal cell carcinoma. Information on corresponding somatic mutations in each sample can be found at http://www.sanger.ac.uk/genetics/CGP/Studies/. Correlating gene expression profiling with mutational status

2010-05-16 | E-GEOD-17818 | biostudies-arrayexpress

Somatic Mutation Screen of Clear Cell RCC I

Project description:Systematic somatic mutation screening of 4000 genes in human clear cell renal cell carcinoma. Information on corresponding somatic mutations in each sample can be found at http://www.sanger.ac.uk/genetics/CGP/Studies/. These samples were run at a different facility than VARI - scmmlab.com Correlating gene expression profiling with mutational status

2010-01-04 | E-GEOD-17816 | biostudies-arrayexpress

Somatic Mutation Screen of Clear Cell RCC I

Project description:Systematic somatic mutation screening of 4000 genes in human clear cell renal cell carcinoma. Information on corresponding somatic mutations in each sample can be found at http://www.sanger.ac.uk/genetics/CGP/Studies/. These samples were run at a different facility than VARI - scmmlab.com

2010-01-05 | GSE17816 | GEO

Differentiated somatic cells are more efficient than adult stem cells for cloning by somatic cell nuclear transfer

Project description:Since the creation of Dolly, the first sheep cloned via somatic cell nuclear transfer (SCNT), in 1997, more than a dozen species of mammals have been cloned using this technology. One hypothesis for the limited success of cloning via SCNT (1-5%) is that the clones are likely derived from adult stem cells, which form an extremely small fraction in most adult tissues. Support for this hypothesis is that the cloning efficiency of full term development using embryonic stem (ES) cells as nuclear donors is 5-10 times higher than that for somatic cells as nuclear donors. Additionally, cloned pups could not be produced directly from cloned embryos derived from nuclei of differentiated B and T cells or neuronal cells. The question remains: can SCNT-derived animal clones be derived from truly differentiated somatic cells? We tested this hypothesis with mouse hematopoietic cells at different differentiation stages: hematopoietic stem cells (HSCs), progenitor cells (HPCs), and granulocytes. Surprisingly, we found that cloning efficiency increases over the differentiation hierarchy. The terminally differentiated post-mitotic granulocytes yielded the greatest cloning efficiency and we produced two cloned pups from granulocytes. We conclude that cloned mammals could be directly derived from post-mitotic differentiated somatic cells. Keywords: cell type comparison

2006-10-01 | GSE5677 | GEO