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.

Loi E., Moi L., Blois S., Bacchelli E., Vega Benedetti A.F., Cameli C., et al. (2020). ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 24(2), 2064-2069 [10.1111/jcmm.14733].

ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario

Bacchelli E.;Cameli C.;Maestrini E.;Zavattari P.
2020

Abstract

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.
2020
Loi E., Moi L., Blois S., Bacchelli E., Vega Benedetti A.F., Cameli C., et al. (2020). ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario. JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 24(2), 2064-2069 [10.1111/jcmm.14733].
Loi E.; Moi L.; Blois S.; Bacchelli E.; Vega Benedetti A.F.; Cameli C.; Fadda R.; Maestrini E.; Carta M.; Doneddu G.; Zavattari P.
File in questo prodotto:
File Dimensione Formato  
ELMOD3‐SH2D6_jcmm19.pdf

accesso aperto

Tipo: Versione (PDF) editoriale
Licenza: Licenza per Accesso Aperto. Creative Commons Attribuzione (CCBY)
Dimensione 1.25 MB
Formato Adobe PDF
1.25 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/725114
Citazioni
  • ???jsp.display-item.citation.pmc??? 7
  • Scopus 10
  • ???jsp.display-item.citation.isi??? 10
social impact