A direct comparison of interphase FISH versus low-coverage single cell sequencing to detect aneuploidy reveals respective strengths and weaknesses

Andriani, Grasiella; Maggi, Elaine C.; Piqué, Daniel G.; Zimmerman, Stephanie M.; Lee, Moonsook; Quispe-Tintaya, Wilber; Maslov, Alexander Y.; Campisi, Judith; Vijg, Jan; Mar, Jessica C.; Montagna, Cristina

doi:10.1038/s41598-019-46606-w

Cited by 17 publications

(10 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Very different rates of neuronal aneuploidy in the brain have been reported in the literature. However, we note that the lagging chromosome percentages seen here are consistent with the percentages of aneuploidy reported for the human brain in recent studies ( 55 – 57 ). Mis-segregation may also result in apoptosis and loss of progenitors and the radial units they would have generated.…”

Section: Discussionsupporting

confidence: 93%

Longer metaphase and fewer chromosome segregation errors in modern human than Neanderthal brain development

et al. 2022

View full text Add to dashboard Cite

Since the ancestors of modern humans separated from those of Neanderthals, around 100 amino acid substitutions spread to essentially all modern humans. The biological significance of these changes is largely unknown. Here, we examine all six such amino acid substitutions in three proteins known to have key roles in kinetochore function and chromosome segregation and to be highly expressed in the stem cells of the developing neocortex. When we introduce these modern human-specific substitutions in mice, three substitutions in two of these proteins, KIF18a and KNL1, cause metaphase prolongation and fewer chromosome segregation errors in apical progenitors of the developing neocortex. Conversely, the ancestral substitutions cause shorter metaphase length and more chromosome segregation errors in human brain organoids, similar to what we find in chimpanzee organoids. These results imply that the fidelity of chromosome segregation during neocortex development improved in modern humans after their divergence from Neanderthals.

show abstract

Section: Discussionsupporting

confidence: 93%

Longer metaphase and fewer chromosome segregation errors in modern human than Neanderthal brain development

et al. 2022

View full text Add to dashboard Cite

show abstract

“…Interestingly, advanced atherosclerotic lesions contain senescent cells, which can further drive pathology through an increase in expression of atherogenic and inflammatory cytokines and chemokines (Childs et al, 2016). Cellular senescence is permanent cessation of cellular proliferation, which is often induced by DNA damage and genome instability (Andriani et al, 2019;Campisi, 2013).…”

Section: Somatic Evolutionmentioning

confidence: 99%

Pathogenic Mechanisms of Somatic Mutation and Genome Mosaicism in Aging

Vijg

Dong

2020

Cell

Self Cite

118

View full text Add to dashboard Cite

“…We also observed a higher tendency of FISH to report trisomies and monosomies in chromosomes which were defined by SCGS as mostly disomic in almost all cells of BPK282 cl4 and BPK081 cl8 clones, as chr01 and chr22. This discrepancy is likely due to accuracy limitations in FISH ( 44 , 45 ).…”

Section: Discussionmentioning

confidence: 99%

High throughput single-cell genome sequencing gives insights into the generation and evolution of mosaic aneuploidy inLeishmania donovani

Negreira

Monsieurs

Imamura

et al. 2021

Nucleic Acids Research

View full text Add to dashboard Cite

Leishmania, a unicellular eukaryotic parasite, is a unique model for aneuploidy and cellular heterogeneity, along with their potential role in adaptation to environmental stresses. Somy variation within clonal populations was previously explored in a small subset of chromosomes using fluorescence hybridization methods. This phenomenon, termed mosaic aneuploidy (MA), might have important evolutionary and functional implications but remains under-explored due to technological limitations. Here, we applied and validated a high throughput single-cell genome sequencing method to study for the first time the extent and dynamics of whole karyotype heterogeneity in two clonal populations of Leishmania promastigotes representing different stages of MA evolution in vitro. We found that drastic changes in karyotypes quickly emerge in a population stemming from an almost euploid founder cell. This possibly involves polyploidization/hybridization at an early stage of population expansion, followed by assorted ploidy reduction. During further stages of expansion, MA increases by moderate and gradual karyotypic alterations, affecting a defined subset of chromosomes. Our data provide the first complete characterization of MA in Leishmania and pave the way for further functional studies.

show abstract

A direct comparison of interphase FISH versus low-coverage single cell sequencing to detect aneuploidy reveals respective strengths and weaknesses

Cited by 17 publications

References 33 publications

Longer metaphase and fewer chromosome segregation errors in modern human than Neanderthal brain development

Longer metaphase and fewer chromosome segregation errors in modern human than Neanderthal brain development

Pathogenic Mechanisms of Somatic Mutation and Genome Mosaicism in Aging

High throughput single-cell genome sequencing gives insights into the generation and evolution of mosaic aneuploidy inLeishmania donovani

Contact Info

Product

Resources

About