The research focuses on a #RareDisease known as Mosaic Variegated #Aneuploidy (MVA), which is caused by mutations in genes responsible for the correct distribution of chromosomes during cell division. Individuals with this condition have cells with an irregular number of chromosomes.

Researchers present high-quality #haplotype-resolved MHC assemblies for five widely used #TumorCellLines, enabling precise #GeneticProfiling, revealing #aneuploidy patterns, and advancing insights into tumor #immunogenomics. @fudan-university.bsky.social

Read: doi.org/10.1016/j.ge...

PGT-A as an IVF Add-On: 25 Years of Controversy This episode of the https://www.spreaker.com/show/progress-educational-trust-podcast discusses longstanding controversies surrounding PGT-A (preimplantation genetic testing for aneuploidy) – an 'add-on' to IVF treatment whose use has been the subject of lively debate for the past 25 years. The discussion – which originally took place at the PET Annual Conference – is introduced by Sarah Norcross (Director of PET) and chaired by Dr Deborah Cohen (science writer and broadcaster), with contributions from: ⚫ Professor Karen Sermon (former Chair of the European Society of Human Reproduction and Embryology) ⚫ Dr Justin Chu (Medical Director of TFP Oxford Fertility) ⚫ James Lawford Davies (Partner at LDMH Partners) ⚫ Professor Manuela Perrotta (Leader of the Remaking Fertility initiative) PET is grateful to Remaking Fertility – an initiative based at Queen Mary University of London – for supporting this discussion. PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast. Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.

📣 New Podcast! "PGT-A as an IVF Add-On: 25 Years of Controversy" on @Spreaker #aneuploidy #bioethics #chromosomal #chromosome #dna #embryo #embryology #embryos #ethics #fertility #genetic #genetics #infertile #infertility #ivf #law #medicine #miscarriage #regulation #screening

Restoring Shugoshin 1 reduces chromosome errors in human eggs Aneuploidy in human eggs, which rises sharply with age, is a leading cause of infertility, IVF failure, and miscarriage. This age-related aneuploidy is primarily driven by premature sister chromatid s...

www.biorxiv.org/content/10.6...
(preprint- not yet peer-reviewed)
#SGO1 level restoration
#aneuploidy
#IVF

Delighted to share my PhD work with @schuhlab.bsky.social @mpi-nat.bsky.social on #humaneggrejuvenation, now available as a preprint on @biorxivpreprint.bsky.social 🎉

Grateful to my collaborators for the teamwork and support 🙌

More details here 👇
www.biorxiv.org/content/10.6...

#Aging #Aneuploidy

⏪ G&D RECAP ⏪

🗓️ June 2025
RESEARCH PAPER: Aneuploidy generates enhanced nucleotide dependency and sensitivity to metabolic perturbation
By Magesh et al., Stephen Elledge, and Emma Watson
➡️ https://genesdev.cshlp.org/content/39/11-12/770.full

#aneuploidy #cancer #metabolism #chemotherapy

RESEARCH PAPER: UPR deficiency leads to poor growth, aneuploidy, and a trade-off between ER and general proteostasis in yeast
By Bartolutti et al. and Gloria Brar
➡️ https://genesdev.cshlp.org/content/39/23-24/1434.full

#aneuploidy #unfoldedproteinresponse #UPR #proteinfolding #proteostasis #yeast

Model for RQC impacts on aging in aneuploid cells. Healthy cells maintain ubiquitin stasis as part of the Ubiquitin-Proteasome System (UPS). We propose that defects in RQC either produce or indirectly cause protein aggregates that sequester ubiquitin, thereby depleting the pool of accessible ubiquitin,

Why do disorders caused by chromosomal #aneuploidy, like #DownSyndrome, involve premature #aging? This study shows that #chromosome amplification in yeast causes defects in the #ribosomeQC pathway, leading to #ProteinAggregation & aging @plosbiology.org 🧪 plos.io/4rliUT0

Model for RQC impacts on aging in aneuploid cells. Healthy cells maintain ubiquitin stasis as part of the Ubiquitin-Proteasome System (UPS). We propose that defects in RQC either produce or indirectly cause protein aggregates that sequester ubiquitin, thereby depleting the pool of accessible ubiquitin,

Why do disorders caused by chromosomal #aneuploidy, like #DownSyndrome, involve premature #aging? This study shows that #chromosome amplification in yeast causes defects in the #ribosomeQC pathway, leading to #ProteinAggregation & aging @plosbiology.org 🧪 plos.io/4rliUT0

Beyond Selection: How chromosome 12 gain dominates stem cell genomes. Orléna Benamozig and Ofer Shoshani @weizmanninstitute.bsky.social highlight new work from @gorbskylab.bsky.social (rupress.org/jcb/article/...) in Spotlight: rupress.org/jcb/article/...

#Aneuploidy #StemCells

Image background shows An immunofluorescence microscopy image of kidney tissue showing different tissue structures stained in red, blue, and green. The overlapping colours in some regions suggest the complex structure and the close association of these different cell types within the kidney. Text reads: We are hiring: Postdoctoral Scientist Department: Cancer Dynamics Salary: £37,000 - £44,852 pa (dependent upon qualifications and experience) Job ID: MI/25/56 Apply by 23rd November 2025

Exciting #postdoc opportunity to join @turajliclab.bsky.social here in #Manchester (with visiting scientist status @crick.ac.uk) to use novel tools to investigate #aneuploidy in #KidneyCancer

For full details of the position, including how to apply, visit:

www.cruk.manchester.ac.uk/career/mi-25...

Spotlight @jcb.org: Benamozig and Shoshani @weizmanninstitute.bsky.social highlight work from the Gorbsky Lab @gorbskylab.bsky.social (rupress.org/jcb/article/...), which shows how chromosomal instability can rapidly cause #aneuploidy. rupress.org/jcb/article/...

Spotlight: Benamozig and Shoshani @weizmanninstitute.bsky.social highlight work from the Gorbsky Lab @gorbskylab.bsky.social (rupress.org/jcb/article/...), which shows how chromosomal instability can rapidly cause #aneuploidy. rupress.org/jcb/article/...

#StemCells

The reckoning of chromosomal instability: past, present, future - Chromosome Research Quantitative measures of CIN are crucial to our understanding of its role in cancer. Technological advances have changed the way CIN is quantified, offering increased accuracy and insight. Here, we re...

Chromosomal instability is everywhere in cancer biology—but how do we actually measure it?
Our 2024 review The Reckoning of CIN: Past, Present, Future (Lynch, Bradford, Burkard et al.) digs into the methods, pitfalls, and what’s coming next. #CIN #Aneuploidy #CancerBiology

Happy to share our latest preprint, where we present a novel high-throughput #single-cell DNA method that resolves genomic heterogeneity in #Leishmania, from #aneuploidy, #CNVs to #drug-resistance mutations.

🧵...

Link here: www.biorxiv.org/content/10.1...

Thank you to Dr. Ethan Dmitrovsky, director of Frederick National Laboratory for #CancerResearch, for presenting our first #GrandRounds of the academic year.
Watch his talk discussing #therapeutic roles of new cell cycle inhibitors that target #aneuploidy: youtu.be/ibZbSgBk0uQ?...

Haplotype-resolved assemblies of the MHC region in five widely used tumor cell lines

In this study, scientists characterized the #aneuploidy of the #MajorHistocompatibilityComplex region in five widely used #tumorcelllines -, #A549, #HeLa, #HepG2, K562, and U2OS, providing a comprehensive genetic landscape of this crucial immunological locus. #medsky

#OpenAccess: buff.ly/6S44RFV

The LongTREC video series continues with Pablo Angulo Lara, a Doctoral Candidate at @iitalk.bsky.social, where he works under the supervision of Francesco Nicassio.
In this video, Pablo talks about his research and its impact.
#LongReadsTranscriptomics #aneuploidy #cancer #computationalpipelines

Aneuploidy in Cancer: Mechanisms, Consequences, and Therapeutic Implications - OncoDaily Aneuploidy in cancer fuels genomic instability, tumor evolution, immune evasion, and therapy resistance. Learn its mechanisms, consequences, and clinical relevance.

Aneuploidy in Cancer: Mechanisms, Consequences, and Therapeutic Implications

oncodaily.com/oncolibrary/...

#OncoDaily #Oncology #Cancer #Health #Medicine #MedEd #MedOnc #MedNews #Aneuploidy #TumorGenetics #GenomicInstability #CancerBiology

X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height | PNAS Many human phenotypic traits vary between the sexes, including adult height for which males are, on average, 13 cm taller than females. The biologi...

#humansexualvariability
#aneuploidy
#genetics

Confirmed: Genes on sex chromosomes X and Y, and related hormones, contribute to height differences of ♂️ and ♀️.

New: Height differences for 1.225 people - of 928.605 with international ancestry - who have more or fewer X or Y chromosomes...

Drs Kyrie Dickson, Jaime Costales, Malgorzata Domagalska, Ferre Veken & Martin Llewellyn discuss #genome (dis)organisation in #Trypanosoma #cruzi: innovation through #instability? #Adaptation #Chagas #Aneuploidy #Trypanosomatids

www.cell.com/trends/paras...

#First successful generation of naïve marmoset ES cells and blastoids is now in the #MHR Early Career Innovator Series!
The authors explored the #marmoset as a non-human #primate model for studying chromosomal instability and #aneuploidy during early #embryo development.

Haplotype-resolved assemblies of the MHC region in five widely used tumor cell lines

Characterizing the #aneuploidy of the MHC region in five tumor cell lines using integrated #CRISPR-based targeted enrichment with 10x #Genomics linked-read & PacBio HiFi long-read sequencing technologies. #medsky @fudan-university.bsky.social

#OpenAccess: www.sciencedirect.com/science/arti...

Scientists Uncover Key Mechanism in Evolution: Whole-Genome Duplication Drives Long-Term Adaptation | Newswise Georgia Tech scientists uncovered how whole-genome duplication emerges and remains stable over thousands of generations of evolution in the lab.

Scientists Uncover Key Mechanism in Evolution: Whole-Genome Duplication Drives Long-Term Adaptation
www.newswise.com/articles/sci...
#evolution #GeneticMaterial #tetraploidy #aneuploidy #adaptation

Haplotype-resolved assemblies of the MHC region in five widely used tumor cell lines

Characterizing the #aneuploidy of the MHC region in five tumor cell lines using integrated #CRISPR-based targeted enrichment with 10x #Genomics linked-read & PacBio HiFi long-read sequencing technologies. #medsky @fudan-university.bsky.social

#OpenAccess: buff.ly/F0RfOJ0

MDM2 functions as a timer reporting the length of mitosis - Nature Cell Biology Fulcher et al. show that MDM2 times mitosis through self-catalysed ubiquitination and proteasomal destruction, triggering G1 arrest following delays in mitosis associated with chromosome instability and aneuploidy.

☕️Fulcher et al. show that #MDM2 times mitosis through self-catalysed ubiquitination and proteasomal destruction, triggering G1 arrest following delays in #mitosis associated with chromosome instability and #aneuploidy.
bit.ly/3EXaAoN

Proteogenomic analysis reveals adaptive strategies for alleviating the consequences of aneuploidy in cancer | The EMBO Journal imageimageAneuploidy is frequent in cancer, but in vitro it triggers multiple cellular stresses and often delays proliferation. Through integrative proteogenomic analysis of evolved aneuploid cell lin...

I am happy to share my latest scientific contribution published in the EMBO Journal. 🧪 #aneuploidy #cancer

doi.org/10.1038/s443...

🌟A perfect way to wrap up the year-my PhD work is published in @naturecomms.bsky.social! Huge thanks to
@schuhlab.bsky.social, @mpi-nat.bsky.social & all the co-authors🧬🔬Curious about chromosome segregation and #aneuploidy in #meiosis? Check out our study below👇 #Microscopy #Reproduction #Fertility

On the origin of mitosis-derived human embryo aneuploidy - Nature Communications Chromosome segregation errors are common in the early stages of human embryonic development. By examining the first mitotic divisions of human embryos using live cell imaging, three recent studies ide...

On the origin of mitosis-derived human embryo aneuploidy. #Aneuploidy @naturecomms.bsky.social 🧬
www.nature.com/articles/s41...

Normal breast tissues harbour rare populations of aneuploid epithelial cells - Nature Using single-cell DNA sequencing we show that most healthy women harbour rare populations of aneuploid epithelial cells with copy number alteration events in their breast tissue that expand and accumu...

Cancer #aneuploidy observed in ~normal breast tissue from healthy women. 👏 from Lin & Wang, Navin Lab www.nature.com/articles/s41...

Related: Context is everything in the eyes of #evolution. www.nature.com/articles/s41...