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Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms

Overview of attention for article published in Journal of Neurodevelopmental Disorders, July 2015
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Title
Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms
Published in
Journal of Neurodevelopmental Disorders, July 2015
DOI 10.1186/s11689-015-9113-x
Pubmed ID
Authors

Alina Guna, Nancy J. Butcher, Anne S. Bassett

Abstract

22q11.2 deletion syndrome (22q11.2DS) is the most common micro-deletion syndrome. The associated 22q11.2 deletion conveys the strongest known molecular risk for schizophrenia. Neurodevelopmental phenotypes, including intellectual disability, are also prominent though variable in severity. Other developmental features include congenital cardiac and craniofacial anomalies. Whereas existing mouse models have been helpful in determining the role of some genes overlapped by the hemizygous 22q11.2 deletion in phenotypic expression, much remains unknown. Simple model organisms remain largely unexploited in exploring these genotype-phenotype relationships. We first developed a comprehensive map of the human 22q11.2 deletion region, delineating gene content, and brain expression. To identify putative orthologs, standard methods were used to interrogate the proteomes of the zebrafish (D. rerio), fruit fly (D. melanogaster), and worm (C. elegans), in addition to the mouse. Spatial locations of conserved homologues were mapped to examine syntenic relationships. We systematically cataloged available knockout and knockdown models of all conserved genes across these organisms, including a comprehensive review of associated phenotypes. There are 90 genes overlapped by the typical 2.5 Mb deletion 22q11.2 region. Of the 46 protein-coding genes, 41 (89.1 %) have documented expression in the human brain. Identified homologues in the zebrafish (n = 37, 80.4 %) were comparable to those in the mouse (n = 40, 86.9 %) and included some conserved gene cluster structures. There were 22 (47.8 %) putative homologues in the fruit fly and 17 (37.0 %) in the worm involving multiple chromosomes. Individual gene knockdown mutants were available for the simple model organisms, but not for mouse. Although phenotypic data were relatively limited for knockout and knockdown models of the 17 genes conserved across all species, there was some evidence for roles in neurodevelopmental phenotypes, including four of the six mitochondrial genes in the 22q11.2 deletion region. Simple model organisms represent a powerful but underutilized means of investigating the molecular mechanisms underlying the elevated risk for neurodevelopmental disorders in 22q11.2DS. This comparative multi-species study provides novel resources and support for the potential utility of non-mouse models in expression studies and high-throughput drug screening. The approach has implications for other recurrent copy number variations associated with neurodevelopmental phenotypes.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 86 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Portugal 1 1%
United Kingdom 1 1%
United States 1 1%
Unknown 83 97%

Demographic breakdown

Readers by professional status Count As %
Student > Master 20 23%
Student > Ph. D. Student 17 20%
Student > Bachelor 14 16%
Researcher 10 12%
Unspecified 7 8%
Other 18 21%
Readers by discipline Count As %
Medicine and Dentistry 21 24%
Agricultural and Biological Sciences 20 23%
Biochemistry, Genetics and Molecular Biology 17 20%
Unspecified 10 12%
Neuroscience 9 10%
Other 9 10%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 27 July 2016.
All research outputs
#6,540,065
of 11,428,083 outputs
Outputs from Journal of Neurodevelopmental Disorders
#159
of 249 outputs
Outputs of similar age
#106,681
of 235,196 outputs
Outputs of similar age from Journal of Neurodevelopmental Disorders
#7
of 14 outputs
Altmetric has tracked 11,428,083 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 249 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.0. This one is in the 33rd percentile – i.e., 33% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 235,196 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 51% of its contemporaries.
We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 50% of its contemporaries.