Marianne Lemée

Excited to share our new study on the 1q21.1 locus and its implication in neurodevelopmental disorders 🧠🧬

Read the full publication here ⬇️
@golzio-lab.bsky.social @igbmc.bsky.social @unistra.fr

Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant Abstract. Distal 1q21.1 deletions and duplications are associated with variable phenotypes including autism, head circumference and height defects. To eluc

⭐ NAR Breakthrough! ⭐
New research highlights CHD1L in the chromosome 1q21.1 region—linked to #autism, head size & growth.
🧠 It controls #DNApackaging & genes for #braindevelopment, #cellfate & #connectivity.
Read more: doi.org/10.1093/nar/...
#NARBreakthrough #Neuroscience @igbmc.bsky.social

Constraints on chromosome evolution revealed by the 229 chromosome pairs of the Atlas blue butterfly The genome of the Atlas blue butterfly contains ten times more chromosomes than most butterflies, and more than any other known diploid animal. Wright et al. show that this extraordinary karyotype is ...

How many chromosomes can an animal have?

In our paper out now in @currentbiology.bsky.social we show that the Atlas blue butterfly has 229 chromosome pairs- the highest in diploid Metazoa! These arose by rapid autosome fragmentation while sex chromosomes stayed intact.
www.cell.com/current-biol...

Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation Previous studies suggested that the copy number of the human salivary amylase gene, AMY1, correlates with starch-rich diets. However, evolutionary analyses are hampered by the absence of accurate, seq...

The typeset version of our article, "Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation", is now online. This thread will provide an overview of how gene duplications have shaped modern variation in the amylase locus.
www.science.org/doi/10.1126/...

A male-essential miRNA is key for avian sex chromosome dosage compensation - Nature Birds have evolved a unique sex chromosome dosage compensation mechanism involving the male-biased microRNA (miR-2954), which is essential for male survival by regulating the expression of dosage-sens...

Our study on a male-essential microRNA and the evolution of other dosage compensation mechanisms in birds is now out in Nature! www.nature.com/articles/s41...

We are delighted to share our new preprint “The evolution of gene regulatory programs controlling gonadal development in primates” www.biorxiv.org/content/10.1...

Inducible formation of fusion transcripts upregulates haploinsufficient CHD2 gene expression Modes of action of long noncoding RNAs (lncRNAs) are poorly understood. CHASERR is a broadly expressed lncRNA located immediately upstream of the promoter of the CHD2 gene. We show that antisense olig...

Stop the doom scrolling! A new 🗞️ from my lab, describing one of our flagship projects of many years we are super excited to share:
"Inducible formation of fusion transcripts upregulates haploinsufficient CHD2 gene expression".
A 🧵
biorxiv.org/content/earl...

✨ We tend to think of species-specific differences as resulting from the presence of species-specific genes. In our latest work with @djabaudon.bsky.social, we show that building brains is not only about which genes you use, but also about when and where you do.
www.biorxiv.org/content/10.1...

Genetic diversity and regulatory features of human-specific NOTCH2NL duplications https://www.biorxiv.org/content/10.1101/2025.03.14.643395v1

(A) Allelic variation at Tabby controls color patterning—mackerel (Taᴹ) is dominant over blotched (Taᵇ). Diagrams show how the distribution of eumelanin (dark) and pheomelanin (light) within hairs contributes to coat patterns. (B) Taqpep encodes a type II membrane aminopeptidase. The T139N variant, found in feral cats, is associated with swirled patterns (P = 0.0017) but shows incomplete penetrance.

How did Coati get their stripes? Not yet known ... but we know how another Carnivore loses them! 3 mutations in gene TAQPEP changes a cat from tabby striped to blotchy #RIP #2025MMM www.science.org/doi/10.1126/...

How does gene regulation shape brain evolution? Our new preprint dives into this question in the context of mammalian cerebellum development! rb.gy/dbcxjz
Led by @ioansarr.bsky.social, @marisepp.bsky.social and @tyamadat.bsky.social, in collaboration with @steinaerts.bsky.social

#DanioDigest (February 2025) - the Node An easily-consumable recap of the latest happenings in the #zebrafish community! Use these links below to get to the section you want: Community news

Now live! The #DanioDigest for February 2025 is now posted to @the-node.bsky.social 😎 Don't worry, we will still post to Bluesky in a mega-thread in the coming days but until then, get a sneak peek of the latest happenings in the #zebrafish community! #RockOn thenode.biologists.com/daniodigest-... 🧪

Comparative characterization of human accelerated regions in neurons - Nature The cis-regulatory functions of human accelerated regions of genomic loci and their potential contribution to human brain evolution are revealed.

Very nice work by @xiekuicui.bsky.social & Han Yang (Yin Shen lab; also K. Pollard @brainevodevo.bsky.social), providing a detailed characterization of human accelerated regions in neurons. Prime-editing experiments highlight differences in neuritogenesis between humans and chimps 🧪🧬🧠
@nature.com

Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant Distal 1q21.1 deletions and duplications are associated with variable phenotypes including autism, head circumference and height defects. To elucidate which gene(s) are responsible for the 1q21.1 dupl...

Our latest preprint just dropped! Give it a read. 🚀📄 #NewResearch
www.biorxiv.org/content/10.1...

Thanks for sharing our work!! 🐟🧬

Thrilled to share our latest research! Our manuscript on CHD1L’s role in neurodevelopment and its implications in 1q21.1 syndromes is now on BioRxiv! 🧬🐟🧠

🔬 Read our findings: doi.org/10.1101/2025...
#Neurodevelopment #1q21.1 #Zebrafish #hiPSC

@golzio-lab.bsky.social
@igbmc.bsky.social

Constrained roads to complex brains Neural development and brain circuit evolution converged in birds and mammals

And please check out the wonderful Perspective by Maria Tosches and Giacomo Gattoni on our paper and the two related ones by the groups of @steinaerts.bsky.social and Fernando Garcia-Moreno!!
www.science.org/doi/10.1126/...

Constrained roads to complex brains Neural development and brain circuit evolution converged in birds and mammals

Three fantastic @science.org papers on convergent development & evolution of neurons + their connections in the bird &
mammalian pallia, by @kaessmannlab.bsky.social @steinaerts.bsky.social & Fernando García-Moreno.
Expertly synthesised by @giacomogattoni.bsky.social & Maria Antonietta Tosches 🧪🧠

Developmental origins and evolution of pallial cell types and structures in birds Innovations in the pallium likely facilitated the evolution of advanced cognitive abilities in birds. We therefore scrutinized its cellular composition and evolution using cell type atlases from chick...

So excited to announce that our study on the development and evolution of pallial cell types and structures in birds, led by @bassi-z.bsky.social, is now out in @science.org!
www.science.org/doi/10.1126/...