Copy number variation

A couple drinks tea at a café.
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Partner selection may amplify rare variants in children

Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.

By Calli McMurray
6 July 2023 | 5 min read
Illustration of mitochondria as a kind of Stonehenge, with the shapes standing upright, casting shadows, against a blue sky.
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Mitochondria mediate effects of PTEN mutations

Whole-genome sequencing data — which include information about mitochondrial DNA — offer clues to why mutations in the same gene can lead to autism or cancer.

By Katie Moisse
26 June 2023 | 4 min read
Research diagram of brains viewed from overhead and in profile.

Brain signatures of rare variants hint at cardiovascular risk

People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.

By Laura Dattaro
24 March 2023 | 4 min read
X chromosome against a dark background.

Common and rare autism-linked variants share functional effects

Within the 16p region of the genome, the two types of variants similarly decrease neuronal gene expression — an effect that may reflect their spatial relationship.

By Nora Bradford
1 December 2022 | 4 min read
A young girl rubs her eyes in a dark room.
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Autistic people at increased genetic risk of sleep problems

Compared with their unaffected siblings and unrelated controls, children with autism harbor more copy number variants in genes that govern the circadian cycle or are associated with insomnia.

By Holly Barker
18 October 2022 | 5 min read
Conceptual illustration of a door leading from one area of the brain to another area of the brain.
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Autism’s genetic heterogeneity evident in brain connectivity patterns

The results highlight the importance of subgrouping study participants based on their underlying genetics, the researchers say.

By Angie Voyles Askham
27 September 2022 | 5 min read
Illustration of two chromosomes with copy number variants.

‘Dosage sensitivity map’ predicts active ingredients in copy number variants

The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.

By Peter Hess
31 August 2022 | 4 min read
A large MRI scan of a human brain, with a grid of 15 smaller MRI scans to its left

Chromosome 22 mutations leave telltale marks on brain development in autistic people

Many brain regions develop differently between people with 22q11.2 duplications and deletions, and those trajectories also vary with a person’s diagnosis.

By Angie Voyles Askham
24 August 2022 | 4 min read
Conceptual illustration of chromosomal abnormalities

Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody

Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.

By Peter Hess
22 August 2022 | 5 min read
Conceptual illustration of a DNA double helix
Spectrum Microphone

Scans of sundry variant types uncover autism-linked genes

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

By Chloe Williams
18 August 2022 | 7 min read

Explore more from The Transmitter

Brain organoids overgrowth; DSCAM gene; sleep issues in autism

Here is a roundup of autism-related news and research spotted around the web for the week of 24 June.

By Jill Adams
25 June 2024 | 2 min read
Close-up image of a dead fly with visible growths protruding from its abdomen due to Entomophthora fungus infection.

Mind control in zombie flies: Q&A with Carolyn Elya

A parasitic fungus compels its insect host to behave in strange ways by hijacking secretory neurons and circadian pathways.

By Shaena Montanari
25 June 2024 | 5 min read
Illustration of a canyon landscape with an orange clock face in place of a sun.

How to teach this paper: ‘Behavioral time scale synaptic plasticity underlies CA1 place fields,’ by Bittner and Milstein et al. (2017)

Katie Bittner, Aaron Milstein and their colleagues found that cellular learning can happen over longer timescales than Hebb’s rule predicts. How long should we wait to teach students about this phenomenon?

By Ashley Juavinett
24 June 2024 | 11 min read