The DOI matches its Crossref record; 55 of the 55 references it cites were found in a registry or an index.
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism
Open accessAbstract
Recurrent copy number variations (CNVs) of human 16p11.2 have been associated with a variety of developmental/neurocognitive syndromes. In particular, deletion of 16p11.2 is found in patients with autism, developmental delay, and obesity. Patients with deletions or duplications have a wide range of clinical features, and siblings carrying the same deletion often have diverse symptoms. To study the consequence of 16p11.2 CNVs in a systematic manner, we used chromosome engineering to generate mice harboring deletion of the chromosomal region corresponding to 16p11.2, as well as mice harboring the reciprocal duplication. These 16p11.2 CNV models have dosage-dependent changes in gene expression, viability, brain architecture, and behavior. For each phenotype, the consequence of the deletion is more severe than that of the duplication. Of particular note is that half of the 16p11.2 deletion mice die postnatally; those that survive to adulthood are healthy and fertile, but have alterations in the hypothalamus and exhibit a “behavior trap” phenotype—a specific behavior characteristic of rodents with lateral hypothalamic and nigrostriatal lesions. These findings indicate that 16p11.2 CNVs cause brain and behavioral anomalies, providing insight into human neurodevelopmental disorders.
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In the citing paper
“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 [5]
In the citing paper
“However, 16p11.2+/− models show reduced body size/weight [4, 5, 60, 61, 63], in contrast to the human obesity phenotype.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“The 16p11.2dp/+ mice (Mills) exhibit social and cognitive deficits [72, 73] along with increased repetitive self-grooming [5, 72], with the absence of motor coordination deficits [72].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“16p11.2dp/+ mice also exhibit hypolocomotion [5, 72, 73], in direct contrast to 16p11.2+/− animals.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“Hyperlocomotion is also broadly reported in 16p11.2+/− mice [4, 5, 59, 61, 63, 64, 70], another behavioral feature that does not coincide directly with human symptomology.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“Increased volumes of several brain areas, including the hypothalamus, midbrain, cerebellar cortex, striatum, nucleus accumbens and globus pallidus, are observed in 16p11.2+/− mice (Mills, Dolmetsch) [4, 5, 96]”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“No significant differences were found between 16p11.2dp/+ (Mills) and WT mice, though trends toward reduced volume were observed in several regions [5].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [5]
In the citing paper
“For example reciprocal deletion and duplication of 16p11.2 result in similar brain structural alterations in human and mouse, the deletion associated with brain overgrowth and the duplication associated with reduced brain volume (Horev et al., 2011; McCarthy et al., 2009; Shinawi et al., 2010), and structural alterations appear to be widely distributed across multiple brain regions.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Horev et al., 2011
In the citing paper
“Behavioral abnormalities associated with CNVs have been confirmed in animal models (Horev et al., 2011; Nakatani et al., 2009; Peca et al., 2011; Tabuchi et al., 2007; Tamada et al., 2010).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Horev et al., 2011
In the citing paper
“Mice with reciprocal deletions and duplication of 16p11.2 have contrasting effects on mobility, grooming and repetitive behaviors (Horev et al., 2011).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Horev et al., 2011
In the citing paper
“For example reciprocal deletion and duplication of 16p11.2 result in similar brain structural alterations in human and mouse, the deletion associated with brain overgrowth and the duplication associated with reduced brain volume (Horev et al., 2011; McCarthy et al., 2009; Shinawi et al., 2010), and structural alterations appear to be widely distributed across multiple brain regions.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Horev et al., 2011
In the citing paper
“Relative volumetric changes in mice modeling the 16p11.2 duplication (dp/+) are in the opposite direction to those observed in the df/+ mice [159].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [159]
In the citing paper
“When compared to WT controls, mice that model the deletion (df/+) have increased relative volume as detected by MRI in the basal forebrain, superior colliculus, fornix, hypothalamus, mammillothalamic tract, midbrain and periaqueductal grey [159].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [159]
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Metadata
- Authors
- Horev, G., Ellegood, J., Lerch, J. P., Son, Y.-E. E., Muthuswamy, L., Vogel, H., Krieger, A. M., Buja, A., Henkelman, R. M., Wigler, M., & Mills, A. A.
- Affiliations
- Cold Spring Harbor Laboratory (US)
- Hospital for Sick Children (CA)
- Stanford Medicine (US)
- Wharton School, University of Pennsylvania, Philadelphia, PA 19104
- University of Pennsylvania (US)
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2011-10-03
- Volume
- 108
- Issue
- 41
- Pages
- 17076-17081
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC3193230
- OpenAlex
- W2052578932
- Cited by
- 330
- References
- 55
- Citations by year
- 2026: 15 · 2025: 10 · 2024: 32 · 2023: 29 · 2022: 17 · 2021: 24 · 2020: 20 · 2019: 22 · 2018: 24 · 2017: 21 · 2016: 20 · 2015: 28 · 2014: 22 · 2013: 16 · 2012: 25
- FWCI
- 13.57
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- ScholarlyCommons (University of Pennsylvania) (submittedVersion)
- 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
- 16p11.2, copy number variation, autism spectrum disorder, chromosome engineering, mouse model, 16p11.2 deletion, 16p11.2 duplication, hypothalamus, nigrostriatal lesion, brain architecture, neurodevelopmental disorders, developmental delay, obesity
- MeSH terms
- Animals, Autistic Disorder, Behavior, Animal, Brain, Chromosome Deletion, Chromosomes, Human, Pair 16, Circadian Rhythm, Disease Models, Animal, Female, Genetic Engineering, Humans, Magnetic Resonance Imaging, Male, Mice, Inbred C57BL, Mice, Mutant Strains, Phenotype, Pregnancy, Gene Dosage, Mice, Transcriptome
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