We are analyzing https://link.springer.com/article/10.1007/s00412-016-0615-4.

Title:
Investigating somatic aneuploidy in the brain: why we need a new model | Chromosoma
Description:
The steady occurrence of DNA mutations is a key source for evolution, generating the genomic variation in the population upon which natural selection acts. Mutations driving evolution have to occur in the oocytes and sperm in order to be transmitted to the next generation. Through similar mechanisms, mutations also accumulate in somatic cells (e.g., skin cells, neurons, lymphocytes) during development and adult life. The concept that somatic cells can collect new mutations with time suggests that we are a mosaic of cells with different genomic compositions. Particular attention has been recently paid to somatic mutations in the brain, with a focus on the relationship between this phenomenon and the origin of human diseases. Given this progressive accumulation of mutations, it is likely that an increased load of somatic mutations is present later in life and that this could be associated with late-life diseases and aging. In this review, we focus on a particular type of mutation: the loss and/or gain of whole chromosomes (i.e., aneuploidy) caused by errors in chromosomes segregation in neurons and glia. Currently, it is hard to grasp the functional impact of somatic mutation in the brain because we lack reliable estimates of the proportion of aneuploid cells in the normal brain across different ages. Here, we revisit the key studies that attempted to quantify the proportion of aneuploid cells in both normal and diseased brains and highlight the deep inconsistencies among the different studies done in the last 15 years. Finally, our review highlights several limitations of studies performed in human and rodent models and explores a possible translational role for non-human primates.
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Keywords {🔍}

pubmed, article, google, scholar, cas, central, brain, human, aneuploidy, somatic, neurons, neurosci, cells, cell, genome, disease, chromosome, sequencing, research, carbone, singlecell, science, variation, aging, normal, nature, chun, dna, mutations, alzheimers, nat, yang, content, lucia, mcconnell, access, single, chromosomal, neuronal, rehen, sci, privacy, cookies, adult, mutation, aneuploid, number, biol, mammalian, kaushal,

Topics {✒️}

month download article/chapter single-cell copy-number variations single-cell genome sequencing low-level chromosomal aneuploidy xxy sex-determining mechanism single-neuron sequencing analysis article chromosoma aims full article pdf investigating somatic aneuploidy copy-number variations genome sequencing reveals single-cell sequencing van der burg privacy choices/manage cookies genome-wide detection article rosenkrantz confined chromosomal mosaicism human embryo fragmentation selective cell death support embryonic development caspase-mediated death research infrastructure programs gene expression single human cell adult cerebellar cortex modeling genome coverage evrony gd single neuron pcr adult murine neurons sex-chromosome anomaly article log european economic area natural selection acts lack reliable estimates comprehensive transcriptional map chavez sl reijo pera ra merotelic kinetochore orientation rising deleteriome adjusted court brown wm spindle assembly checkpoint cytophotometrische dns-messungen genome amplification methods stable spindle position primate genetics section glenn/afar scholarship basic neuroscience research copy number conditions privacy policy related subjects

Questions {❓}

Singer T, McConnell MJ, Marchetto MC, Coufal NG, Gage FH (2010) LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes?

Schema {🗺️}

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