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| Content Provider | PubMed Central |
|---|---|
| Author | Zhuang, Lei Gerber, Simon D. Kuchen, Stefan Villiger, Peter M. Beat, Trueb |
| Abstract | Multiple osteochondromas (also called hereditary multiple exostoses) is an autosomal dominant disorder characterized by multiple cartilaginous tumors, which are caused by mutations in the genes for exostosin-1 (EXT1) and exostosin-2 (EXT2). The goal of this study was to elucidate the genetic alterations in a family with three affected members. Isolation of RNA from the patients’ blood followed by reverse transcription and PCR amplification of selected fragments showed that the three patients lack a specific region of 90 bp from their EXT1 mRNA. This region corresponds to the sequence of exon 8 from the EXT1 gene. No splice site mutation was found around exon 8. However, long-range PCR amplification of the region from intron 7 to intron 8 indicated that the three patients contain a deletion of 4318 bp, which includes exon 8 and part of the flanking introns. There is evidence that the deletion was caused by non-homologous end joining because the breakpoints are not located within a repetitive element, but contain multiple copies of the deletion hotspot sequence TGRRKM. Exon 8 encodes part of the active site of the EXT1 enzyme, including the DXD signature of all UDP-sugar glycosyltransferases. It is conceivable that the mutant protein exerts a dominant negative effect on the activity of the EXT glycosyltransferase since it might interact with normal copies of the enzyme to form an inactive hetero-oligomeric complex. We suggest that sequencing of RNA might be superior to exome sequencing to detect short deletions of a single exon. |
| Related Links | http://dx.doi.org/10.1186/s40064-016-1695-6 |
| Starting Page | 71 |
| File Format | |
| ISSN | 21931801 |
| e-ISSN | 21931801 |
| Journal | SpringerPlus |
| Volume Number | 5 |
| Language | English |
| Publisher | Springer International Publishing |
| Publisher Date | 2016-12-01 |
| Access Restriction | Open |
| Rights Holder | Springer International Publishing |
| Subject Keyword | Research in Higher Education |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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