Short-and long-term effects of chromosome mis-segregation and aneuploidy

S Santaguida, A Amon - Nature reviews Molecular cell biology, 2015 - nature.com
Dividing cells that experience chromosome mis-segregation generate aneuploid daughter
cells, which contain an incorrect number of chromosomes. Although aneuploidy interferes …

Gene balance hypothesis: connecting issues of dosage sensitivity across biological disciplines

JA Birchler, RA Veitia - … of the National Academy of Sciences, 2012 - National Acad Sciences
We summarize, in this review, the evidence that genomic balance influences gene
expression, quantitative traits, dosage compensation, aneuploid syndromes, population …

Aberrant astrocyte protein secretion contributes to altered neuronal development in multiple models of neurodevelopmental disorders

ALM Caldwell, L Sancho, J Deng, A Bosworth… - Nature …, 2022 - nature.com
Astrocytes negatively impact neuronal development in many models of neurodevelopmental
disorders (NDs); however, how they do this, and if mechanisms are shared across disorders …

[HTML][HTML] Autophagy-mediated apoptosis eliminates aneuploid cells in a mouse model of chromosome mosaicism

S Singla, LK Iwamoto-Stohl, M Zhu… - Nature …, 2020 - nature.com
The high incidence of aneuploidy in the embryo is considered the principal cause for low
human fecundity. However, the prevalence of aneuploidy dramatically declines as …

A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome

M Sultan, MH Schulz, H Richard, A Magen… - Science, 2008 - science.org
The functional complexity of the human transcriptome is not yet fully elucidated. We report a
high-throughput sequence of the human transcriptome from a human embryonic kidney and …

Single cell sequencing reveals low levels of aneuploidy across mammalian tissues

KA Knouse, J Wu, CA Whittaker… - Proceedings of the …, 2014 - National Acad Sciences
Whole-chromosome copy number alterations, also known as aneuploidy, are associated
with adverse consequences in most cells and organisms. However, high frequencies of …

[HTML][HTML] Gene copy-number alterations: a cost-benefit analysis

YC Tang, A Amon - Cell, 2013 - cell.com
Changes in DNA copy number, whether confined to specific genes or affecting whole
chromosomes, have been identified as causes of diseases and developmental …

Chromosome 21 and down syndrome: from genomics to pathophysiology

SE Antonarakis, R Lyle, ET Dermitzakis… - Nature reviews …, 2004 - nature.com
The sequence of chromosome 21 was a turning point for the understanding of Down
syndrome. Comparative genomics is beginning to identify the functional components of the …

Down syndrome: the brain in trisomic mode

M Dierssen - Nature Reviews Neuroscience, 2012 - nature.com
Down syndrome is the most common form of intellectual disability and results from one of the
most complex genetic perturbations that is compatible with survival, trisomy 21. The study of …

Aneuploidy: cells losing their balance

EM Torres, BR Williams, A Amon - Genetics, 2008 - academic.oup.com
A change in chromosome number that is not the exact multiple of the haploid karyotype is
known as aneuploidy. This condition interferes with growth and development of an organism …