Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/93071
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dc.contributor.authorPalazzo, Dalila-
dc.contributor.authorFormosa, Robert-
dc.contributor.authorXuereb-Anastasi, Angela-
dc.contributor.authorFormosa, Melissa Marie-
dc.date.accessioned2022-04-06T06:05:05Z-
dc.date.available2022-04-06T06:05:05Z-
dc.date.issued2018-
dc.identifier.citationPalazzo, D., Formosa, R., Xuereb-Anastasi, A., & Formosa, M. M. (2018). Effect of an intronic variant within Zinc finger protein 384 gene on pre-mRNA splicing in a Maltese family with osteoporosis. Malta Medical Journal, 30(s), 150.en_GB
dc.identifier.urihttps://www.um.edu.mt/library/oar/handle/123456789/93071-
dc.description.abstractINTRODUCTION: Osteoporosis is a skeletal disease with a strong genetic basis. A study on an extended Maltese family with a highly penetrant form of osteoporosis, revealed the presence of the rs146089604 variant (c.686+32G>A) in intron 7 of the Zinc finger protein 384 (ZNF384) gene, predicted to affect pre-messenger RNA (mRNA) splicing. The aim of this study was to assess the functional effect of the variant using an exon-trapping vector transfected in three human cell types.en_GB
dc.description.abstractMETHODS: The target DNA region harbouring G or A allele was inserted in the p.SPL3 vector, creating mini-gene constructs that were transfected in human kidney-derived cells (HEK-293) and two human osteoblasts-derived cells (SaOS-2 and h-FOB). Extracted mRNA was converted into complementary DNA (cDNA), amplified by PCR and sequenced to determine the transcript size and identify any splicing variants.en_GB
dc.description.abstractRESULTS: Mini-gene construct with the alternative A allele lead to exon 8 and part of intron 8 to be retained, both of which were spliced off in the presence of the G allele. These results were observed for constructs transfected in the osteoblasts-derived cell lines. In HEK-293 cells, no difference in transcript size was seen for the G or A allele, suggesting different splicing mechanisms.en_GB
dc.description.abstractCONCLUSION: Observations may indicate that the ZNF384 rs146089604 could be a causal variant contributing to osteoporosis. ZNF384 transactivates type I collagen and matrix metalloproteinases, and suppresses bone morphogenic protein (BMP) and Wnt signalling resulting in reduced bone volume and strength. Thus, impaired ZNF384 splicing could alter the protein’s function affecting bone homeostasis.en_GB
dc.language.isoenen_GB
dc.publisherUniversity of Malta. Medical Schoolen_GB
dc.rightsinfo:eu-repo/semantics/openAccessen_GB
dc.subjectOsteoporosis -- Maltaen_GB
dc.subjectOsteoporosis -- Genetic aspectsen_GB
dc.subjectRNA, Messengeren_GB
dc.subjectWnt signaling pathwayen_GB
dc.titleEffect of an intronic variant within Zinc finger protein 384 gene on pre-mRNA splicing in a Maltese family with osteoporosisen_GB
dc.typearticleen_GB
dc.rights.holderThe copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.en_GB
dc.bibliographicCitation.conferencename10th Malta Medical School Conferenceen_GB
dc.bibliographicCitation.conferenceplaceSt. Julian's, Malta, 29/11-01/12/2012en_GB
dc.description.reviewedpeer-revieweden_GB
dc.publication.titleMalta Medical Journalen_GB
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