• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of genetics >A novel RNA-splicing mutation in TRAPPC2 gene causing X-linked spondyloepiphyseal dysplasia tarda in a large Chinese family
【24h】

A novel RNA-splicing mutation in TRAPPC2 gene causing X-linked spondyloepiphyseal dysplasia tarda in a large Chinese family

机译：TRAPPC2基因中的一种新的RNA剪接突变，导致一个中国大家庭中的X连锁性脊椎骨赘发育迟缓

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

X-linked spondyloepiphyseal dysplasia tarda (SEDT; OMIM 313400) is a rare osteochondrodysplasia that occurs in affected individuals between 3 and 12 yr of age. Clinical features include short trunk, barrel-shaped chest and disproportionate short stature. Radiological abnormalities may become evident between 10 and 14 yr of age and include platyspondyly with hump-shaped central and posterior portions of the vertebrae, narrow disc spaces and moderate epiphyseal dysplasia of the long bones, whichmay be associated with osteoarthritis. Female heterozygous carriers are clinically and radiographically normal. SEDT is caused by mutations in the TRAPPC2 gene, (trafficking protein particle complex 2), which spans a genomic region of 20 kb in Xp22. In a large Chinese SEDT family, we screened all the six exons of the TRAPPC2 gene and identified a novel RNA-splicing mutation (IVS4+1A>G).We also demonstrated that the mutation induced splice pattern change from AT/AC to GT/AG. As a result, the first seven nucleotides of exon 5 were spliced out from the transcript. The prediction of the amino acid sequence showed that the seven nucleotides deletion of the transcript caused frame shift and led to premature translation termination, causing loss of two alpha helices. The results of our study expand the spectrum of the gene mutations associated with SEDT, and will help further to elucidate the role of this protein in the etiology of this form of osteochondrodysplasia.
机译：X连锁脊柱骨赘发育迟缓（SEDT; OMIM 313400）是一种罕见的骨软骨发育不良，发生在3至12岁的受影响个体中。临床特征包括躯干短，胸部呈桶形和矮小的身材。放射学异常可能在10至14岁之间变得明显，包括肩突状，脊突状的椎骨中央和后部，狭窄的椎间盘间隙和中骨的长骨epi发育异常，这可能与骨关节炎有关。女性杂合子携带者在临床和放射学上是正常的。 SEDT是由TRAPPC2基因（贩运蛋白质颗粒复合物2）中的突变引起的，该基因跨越Xp22中20 kb的基因组区域。在一个庞大的中国SEDT家族中，我们筛选了TRAPPC2基因的所有六个外显子，并鉴定了一个新的RNA剪接突变（IVS4 + 1A> G），还证明了该突变导致剪接模式从AT / AC变为GT / AG。结果，从转录物中剪出了外显子5的前七个核苷酸。氨基酸序列的预测表明，转录本的七个核苷酸缺失导致移码并导致翻译提前终止，导致两个α螺旋的丢失。我们的研究结果扩大了与SEDT相关的基因突变的范围，并将有助于进一步阐明这种蛋白质在这种形式的骨软骨发育不良的病因中的作用。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号