Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity Article Swipe
Zhengzheng Liang
,
Irène Cimino
,
Binnaz Yalcin
,
Narayanan Raghupathy
,
Valerie E. Vancollie
,
Ximena Ibarra-Soria
,
Helen V. Firth
,
Debra Rimmington
,
I. Sadaf Farooqi
,
Christopher J. Lelliott
,
Steven C. Munger
,
Stephen O’Rahilly
,
Anne C. Ferguson-Smith
,
Anthony P. Coll
,
Darren W. Logan
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1371/journal.pgen.1008916
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1371/journal.pgen.1008916
Some imprinted genes exhibit parental origin specific expression bias rather than being transcribed exclusively from one copy. The physiological relevance of this remains poorly understood. In an analysis of brain-specific allele-biased expression, we identified that Trappc9, a cellular trafficking factor, was expressed predominantly (~70%) from the maternally inherited allele. Loss-of-function mutations in human TRAPPC9 cause a rare neurodevelopmental syndrome characterized by microcephaly and obesity. By studying Trappc9 null mice we discovered that homozygous mutant mice showed a reduction in brain size, exploratory activity and social memory, as well as a marked increase in body weight. A role for Trappc9 in energy balance was further supported by increased ad libitum food intake in a child with TRAPPC9 deficiency. Strikingly, heterozygous mice lacking the maternal allele (70% reduced expression) had pathology similar to homozygous mutants, whereas mice lacking the paternal allele (30% reduction) were phenotypically normal. Taken together, we conclude that Trappc9 deficient mice recapitulate key pathological features of TRAPPC9 mutations in humans and identify a role for Trappc9 and its imprinting in controlling brain development and metabolism.
Related Topics
Concepts
Biology
Allele
Microcephaly
Genomic imprinting
Genetics
Imprinting (psychology)
Phenotype
Null allele
Mutant
Mutation
Gene
Gene expression
DNA methylation
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1371/journal.pgen.1008916
- https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1008916&type=printable
- OA Status
- gold
- Cited By
- 32
- References
- 57
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3081808386
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3081808386Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1371/journal.pgen.1008916Digital Object Identifier
- Title
-
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesityWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2020Year of publication
- Publication date
-
2020-09-02Full publication date if available
- Authors
-
Zhengzheng Liang, Irène Cimino, Binnaz Yalcin, Narayanan Raghupathy, Valerie E. Vancollie, Ximena Ibarra-Soria, Helen V. Firth, Debra Rimmington, I. Sadaf Farooqi, Christopher J. Lelliott, Steven C. Munger, Stephen O’Rahilly, Anne C. Ferguson-Smith, Anthony P. Coll, Darren W. LoganList of authors in order
- Landing page
-
https://doi.org/10.1371/journal.pgen.1008916Publisher landing page
- PDF URL
-
https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1008916&type=printableDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1008916&type=printableDirect OA link when available
- Concepts
-
Biology, Allele, Microcephaly, Genomic imprinting, Genetics, Imprinting (psychology), Phenotype, Null allele, Mutant, Mutation, Gene, Gene expression, DNA methylationTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
32Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 4, 2024: 9, 2023: 6, 2022: 11, 2021: 2Per-year citation counts (last 5 years)
- References (count)
-
57Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| corresponding_author_ids | https://openalex.org/A5079887822, https://openalex.org/A5086474530, https://openalex.org/A5067281001, https://openalex.org/A5001998180, https://openalex.org/A5073910134, https://openalex.org/A5013261212, https://openalex.org/A5005912071, https://openalex.org/A5082043532, https://openalex.org/A5058165101, https://openalex.org/A5084183543, https://openalex.org/A5025094186, https://openalex.org/A5107411948, https://openalex.org/A5018407491, https://openalex.org/A5049698135, https://openalex.org/A5026581291 |
| countries_distinct_count | 3 |
| institutions_distinct_count | 15 |
| corresponding_institution_ids | https://openalex.org/I154526488, https://openalex.org/I241749, https://openalex.org/I2802476451, https://openalex.org/I4210089382, https://openalex.org/I4210115256, https://openalex.org/I4210116691, https://openalex.org/I4210156194, https://openalex.org/I4389425352, https://openalex.org/I68947357, https://openalex.org/I87048295, https://openalex.org/I90344618 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/2 |
| sustainable_development_goals[0].score | 0.44999998807907104 |
| sustainable_development_goals[0].display_name | Zero hunger |
| citation_normalized_percentile.value | 0.92816435 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |