Mosaicism

Recent articles

Illustration of two neurons with a shared origin point.

Cortical interneurons derive differently in human brains

Excitatory neurons and some inhibitory neurons in the adult human cortex share parents, challenging the longstanding idea that the two cell types have different origins.

By Elissa Welle
20 December 2023 | 6 min read
Two teenage girls sit next to each other on a couch, one looking at a cell phone while the other uses a tablet computer.

Turner syndrome tied to autism

Most people with the X-linked syndrome have autism traits, and about one-quarter meet diagnostic criteria for the condition.

By Emmet Fraizer
5 January 2023 | 4 min read
circuit board style lines in black and white suggest sperm approaching an egg.

Mutations linked to autism may be detectable in men’s sperm

An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.

By Emma Yasinski
16 September 2021 | 5 min read
Brain composed of legos with various legos scattered around

Patchwork mutations present a new frontier for autism research

Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.

By Grace Huckins
12 July 2021 | 10 min read
lab technician pipetting in dramatic light

Alternative gene-therapy approaches take aim at Rett syndrome

Methods that selectively increase levels of the Rett protein make for safer and more effective treatment strategies, some researchers say.

By Angie Voyles Askham
16 June 2021 | 7 min read
cells in a mouse brain show the mutations in green.

Molecular switch marks mosaic mutations in mice

A new tool enables researchers to create mosaic mutations in only some cells and then accurately identify which cells are affected.

By Chloe Williams
11 February 2021 | 3 min read
A mosaic made of different colors of maize (corn) kernels depicting DNA.

Two studies highlight role of ‘mosaic’ mutations in autism

Mutations seen in only some of the body's cells often affect gene activity in the brains of people with autism, and can involve large segments of DNA, according to two new studies.

By Charles Q. Choi
11 January 2021 | 3 min read
Adolescent has cheek swabbed

Autism, intellectual disability linked to levels of fragile X protein

People with particularly low levels of FMRP, the protein lacking in those with fragile X syndrome, are more likely to also have autism and severe intellectual disability.

By Laura Dattaro
26 October 2020 | 5 min read
a pattern shows a helix-like form repeating in yellow on dark background.

Machine learning flags ‘mosaic’ mutations that may contribute to autism

A new technique detects rare mutations that occur in only a subset of the body's cells.

By Tara Santora
19 February 2020 | 2 min read

Explore more from The Transmitter

Null and Noteworthy: Neurons tracking sequences don’t fire in order

Instead, neurons encode the position of sequential items in working memory based on when they fire during ongoing brain wave oscillations—a finding that challenges a long-standing theory.

By Laura Dattaro
30 June 2025 | 4 min read

How to teach this paper: ‘Neurotoxic reactive astrocytes are induced by activated microglia,’ by Liddelow et al. (2017)

Shane Liddelow and his collaborators identified the factors that transform astrocytes from their helpful to harmful form. Their work is a great choice if you want to teach students about glial cell types, cell culture, gene expression or protein measurement.

By Ashley Juavinett
30 June 2025 | 10 min read

Astrocytes sense neuromodulators to orchestrate neuronal activity and shape behavior

Astrocytes serve as crucial mediators of neuromodulatory processes previously attributed to direct communication between neurons, four new studies show.

By Claudia López Lloreda
27 June 2025 | 9 min listen