ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario.
ELMOD3
SH2D6
autism spectrum disorder
copy number variant
gene fusion
Journal
Journal of cellular and molecular medicine
ISSN: 1582-4934
Titre abrégé: J Cell Mol Med
Pays: England
ID NLM: 101083777
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
30
07
2019
revised:
04
09
2019
accepted:
07
09
2019
pubmed:
5
12
2019
medline:
23
4
2021
entrez:
5
12
2019
Statut:
ppublish
Résumé
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by high heritability. It is known that genetic factors contribute to ASD pathogenesis. In particular, copy number variants (CNVs) are involved in ASD susceptibility and can affect gene expression regulation. 2p11.2 microdeletions encompassing ELMOD3, CAPG and SH2D6 genes have been described in four unrelated ASD families. The present study revealed that this microdeletion is responsible for the production of a chimeric transcript generated from the fusion between ELMOD3 and SH2D6. The identified transcript showed significantly higher expression levels in subjects carrying the deletion compared to control subjects, suggesting that it is not subjected to nonsense-mediated decay and might encode for a chimeric protein. In conclusion, this study suggests the possible involvement of this gene fusion, together with the other previously identified variants, in ASD.
Identifiants
pubmed: 31800155
doi: 10.1111/jcmm.14733
pmc: PMC6991669
doi:
Substances chimiques
ELMOD3 protein, human
0
GTPase-Activating Proteins
0
Intracellular Signaling Peptides and Proteins
0
SH2D6 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2064-2069Informations de copyright
© 2019 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.
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