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DC Field | Value | Language |
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dc.date.accessioned | 2015-07-01T07:21:14Z | |
dc.date.available | 2015-07-01T07:21:14Z | |
dc.date.issued | 2009 | |
dc.identifier.citation | Bone. 2009, Vol.45, p. 736–742. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar//handle/123456789/3748 | |
dc.description.abstract | In a previous linkage study, suggestive linkage to osteoporosis was observed in marker D11S1392 on chromosome. The CD44 gene, found at this locus, was sequenced in one of the families studied. Sequencing all coding regions and promoter in affected and non-affected family members revealed a number of sequence variants, one of which was found to be linked and inherited identical by descent together with the linked STR allele. This G to A variant, which does not cause an amino acid change, was found in exon 9 of the CD44 gene, 32 base pairs upstream from the exon–intron junction. Preliminary analysis using a bioinformatics tool suggested that the presence of the A allele abolished an exon splicing enhancer (ESE) site, thus possibly affecting RNA splicing. It was observed using an exon-trapping vector, that in the presence of the A allele, only one transcript was observed in RAW264.7 cells, as opposed to two transcripts transcribed in the presence of the G allele. These observations suggest that the linked synonymous variant found in exon 9 of the CD44 gene might be increasing susceptibility to osteoporosis in this family by effecting the splicing mechanism. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | Elsevier | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | CD44 antigen | en_GB |
dc.subject | Osteoporosis | en_GB |
dc.subject | Alternative splicing | en_GB |
dc.subject | RNA | en_GB |
dc.subject | Bones -- Diseases | en_GB |
dc.title | Effects of a synonymous variant in exon 9 of the CD44 gene on pre-mRNA splicing in a family with osteoporosis | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The 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.description.reviewed | N/A | en_GB |
dc.identifier.doi | 10.1016/j.bone.2009.06.027 | |
dc.contributor.creator | Vidal, Christopher | |
dc.contributor.creator | Cachia, Adela | |
dc.contributor.creator | Xuereb-Anastasi, Angela | |
Appears in Collections: | Scholarly Works - FacHScABS |
Files in This Item:
File | Description | Size | Format | |
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Angela Xuereb - Effects of a synonymous variant in exon 9 of the CD44 gene on pre-mRNA splicing.pdf | 1.02 MB | Adobe PDF | View/Open |
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