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Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome

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Veeraragavan, Surabi, Wan, Ying-Wooi, Connolly, Daniel R., Hamilton, Shannon M., Ward, Christopher S., Soriano, Sirena, Pitcher, Meagan R., McGraw, Christopher M. +10 more·2016·Human Molecular Genetics
DOI 10.1093/hmg/ddw178PMC PMC5179927
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Abstract

Mouse models of the transcriptional modulator Methyl-CpG-Binding Protein 2 (MeCP2) have advanced our understanding of Rett syndrome (RTT). RTT is a 'prototypical' neurodevelopmental disorder with many clinical features overlapping with other intellectual and developmental disabilities (IDD). Therapeutic interventions for RTT may therefore have broader applications. However, the reliance on the laboratory mouse to identify viable therapies for the human condition may present challenges in translating findings from the bench to the clinic. In addition, the need to identify outcome measures in well-chosen animal models is critical for preclinical trials. Here, we report that a novel Mecp2 rat model displays high face validity for modelling psychomotor regression of a learned skill, a deficit that has not been shown in Mecp2 mice. Juvenile play, a behavioural feature that is uniquely present in rats and not mice, is also impaired in female Mecp2 rats. Finally, we demonstrate that evaluating the molecular consequences of the loss of MeCP2 in both mouse and rat may result in higher predictive validity with respect to transcriptional changes in the human RTT brain. These data underscore the similarities and differences caused by the loss of MeCP2 among divergent rodent species which may have important implications for the treatment of individuals with disease-causing MECP2 mutations. Taken together, these findings demonstrate that the Mecp2 rat model is a complementary tool with unique features for the study of RTT and highlight the potential benefit of cross-species analyses in identifying potential disease-relevant preclinical outcome measures.

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  • Heterozygous female mice on all genetic backgrounds, as well as female rats, become significantly overweight as they age.

    “Interestingly, heterozygous female mice on all genetic backgrounds, as well as female rats, become significantly overweight as they age [115,117,125], although humans with RTT have a wide range in body mass index [15].”

    From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [115]

    The Results comparison of juvenile female rats and mice (Table 1; page unavailable) reports behavioural phenotypes, not body weight. Searches for overweight, body weight, obesity, and age-related weight gain found no passage in our copy establishing that female rats become significantly overweight, or that mice do so on all genetic backgrounds. (LLM, conf=0.72)

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Cited by

Sorted by citations

Authors
Veeraragavan, S., Wan, Y.-W., Connolly, D. R., Hamilton, S. M., Ward, C. S., Soriano, S., Pitcher, M. R., McGraw, C. M., Huang, S. G., Green, J. R., Yuva, L. A., Liang, A. J., Neul, J. L., Yasui, D. H., LaSalle, J. M., Liu, Z., Paylor, R., & Samaco, R. C.
Affiliations
  • Texas Children's Hospital (US)
  • Baylor College of Medicine (US)
  • University of California, Davis (US)
Corresponding author
Samaco, Rodney C.
ORCID
Venue
Human Molecular Genetics
Publisher
Oxford University Press (OUP)
Published
2016-06-30
Volume
25
Issue
15
Pages
3284-3302
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
DOI
10.1093/hmg/ddw178
PMC
PMC5179927
OpenAlex
W2465265090
Cited by
59
References
12
Citations by year
2025: 3 · 2024: 2 · 2023: 8 · 2022: 6 · 2021: 8 · 2020: 5 · 2019: 6 · 2018: 9 · 2017: 9 · 2016: 3
FWCI
7.27
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • Human Molecular Genetics (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
  • HighWire Press Open Archive (submittedVersion)
Funders
  • Autism Speaks
  • Texas Children's Hospital
  • National Institutes of Health (DP5OD009134, U54 HD083082, HHSN271201300030C)
  • Intellectual and Developmental Disabilities Research Center
  • National Institute of General Medical Sciences (T32GM008307)
  • National Institute of Neurological Disorders and Stroke (R01NS081913)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD083092, R01HD062553, P30HD024064, R01HD079442, R01HD083181)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
Rett syndrome, MeCP2, psychomotor regression, sociability, neurodevelopmental disorders, translational validity, cross-species comparison
MeSH terms
Animals, Behavior, Animal, Disease Models, Animal, Female, Humans, Male, Mutation, Rett Syndrome, Rats, Sprague-Dawley, Mice, Rats, Methyl-CpG-Binding Protein 2, Rats, Transgenic

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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