KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Open accessAbstract
Copy number variants (CNVs) are major contributors to genetic disorders. We have dissected a region of the 16p11.2 chromosome--which encompasses 29 genes--that confers susceptibility to neurocognitive defects when deleted or duplicated. Overexpression of each human transcript in zebrafish embryos identified KCTD13 as the sole message capable of inducing the microcephaly phenotype associated with the 16p11.2 duplication, whereas suppression of the same locus yielded the macrocephalic phenotype associated with the 16p11.2 deletion, capturing the mirror phenotypes of humans. Analyses of zebrafish and mouse embryos suggest that microcephaly is caused by decreased proliferation of neuronal progenitors with concomitant increase in apoptosis in the developing brain, whereas macrocephaly arises by increased proliferation and no changes in apoptosis. A role for KCTD13 dosage changes is consistent with autism in both a recently reported family with a reduced 16p11.2 deletion and a subject reported here with a complex 16p11.2 rearrangement involving de novo structural alteration of KCTD13. Our data suggest that KCTD13 is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV, reinforce the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offer an efficient route to identifying dosage-sensitive loci.
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The human 16p11.2 locus is a roughly 500-600 kb region containing 27-29 genes on the proximal short arm of chromosome 16.
“The human 16p11.2 gene locus (chromosome 16, position 11.2) is a ~500–600 kb region containing 27–29 genes [4–7] located on the proximal short arm of chromosome 16 [8].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [6]
In zebrafish, out of all 16p11.2 gene transcripts, only KCTD13 overexpression drives a microcephalic phenotype with reduced brain cell counts, whereas its suppression produces a macrocephalic phenotype with increased brain cell counts.
“In zebrafish, out of all 16p11.2 gene transcripts, only KCTD13 overexpression drives a microcephalic phenotype with reduced brain cell counts, whereas its suppression produces a macrocephalic phenotype with increased brain cell counts [6].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [6]
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- Authors
- Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., Kamiya, A., Beckmann, J. S., & Katsanis, N.
- Affiliations
- Duke University (US)
- Harvard University (US)
- Johns Hopkins University (US)
- Centre Hospitalier Universitaire Vaudois (CH)
- University of Lausanne (CH)
- Massachusetts General Hospital (US)
- Corresponding author
- Katsanis, Nicholas
- ORCID
- Venue
- Nature
- Published
- 2012-05
- Volume
- 485
- Issue
- 7398
- Pages
- 363-367
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3366115
- OpenAlex
- W1981693548
- Cited by
- 410
- References
- 33
- Citations by year
- 2026: 14 · 2025: 15 · 2024: 29 · 2023: 32 · 2022: 17 · 2021: 36 · 2020: 24 · 2019: 29 · 2018: 34 · 2017: 33 · 2016: 31 · 2015: 37 · 2014: 31 · 2013: 36 · 2012: 12
- FWCI
- 22.29
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- SERVAL (Université de Lausanne) (acceptedVersion, other-oa)
- IRIS (submittedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- National Science Foundation
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- Fondation Leenaards
- Université de Lausanne
- National Institutes of Health (MH084018)
- National Institute of Mental Health (MH-091230, R01MH091230, MH084018, P20MH084018, F32MH087123, P50MH094268, R01MH092443)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD06286)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- microcephaly, macrocephaly, brain development, neuronal progenitor proliferation, apoptosis, autism spectrum disorder, schizophrenia, obesity, neuroanatomical phenotypes, genetic disorders
- MeSH terms
- Animals, Chromosomes, Human, Pair 16, Head, Humans, Microcephaly, Nuclear Proteins, Organ Size, Phenotype, RNA, Messenger, Transcription, Genetic, Zebrafish, Up-Regulation, Apoptosis, Sequence Deletion, Gene Dosage, Gene Duplication, Cell Proliferation, Mice, DNA Copy Number Variations
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