...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genomics >Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.
【24h】

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.

机译：新的视网膜基因中的相同突变会导致犬的渐进式视锥变性和人类的色素性视网膜炎。

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

Progressive rod-cone degeneration (prcd) is a late-onset, autosomal recessive photoreceptor degeneration of dogs and a homolog for some forms of human retinitis pigmentosa (RP). Previously, the disease-relevant interval was reduced to a 106-kb region on CFA9, and a common phenotype-specific haplotype was identified in all affected dogs from several different breeds and breed varieties. Screening of a canine retinal EST library identified partial cDNAs for novel candidate genes in the disease-relevant interval. The complete cDNA of one of these, PRCD, was cloned in dog, human, and mouse. The gene codes for a 54-amino-acid (aa) protein in dog and human and a 53-aa protein in the mouse; the first 24 aa, coded for by exon 1, are highly conserved in 14 vertebrate species. A homozygous mutation (TGC --> TAC) in the second codon shows complete concordance with the disorder in 18 different dog breeds/breed varieties tested. The same homozygous mutation was identified in a human patient from Bangladesh with autosomal recessive RP. Expression studies support the predominant expression of this gene in the retina, with equal expression in the retinal pigment epithelium, photoreceptor, and ganglion cell layers. This study provides strong evidence that a mutation in the novel gene PRCD is the cause of autosomal recessive retinal degeneration in both dogs and humans.
机译：渐进性杆锥变性（prcd）是狗的迟发性常染色体隐性感光受体变性，是某些形式的人类视网膜色素变性（RP）的同源物。以前，与疾病相关的间隔被缩小到CFA9上的一个106 kb区域，并且在几种不同品种和品种的所有患犬中都发现了常见的表型特异性单倍型。犬视网膜EST文库的筛选确定了疾病相关区间中新候选基因的部分cDNA。在狗，人和小鼠中克隆了其中一种的完整cDNA，PRCD。该基因编码狗和人的54个氨基酸（aa）蛋白和小鼠的53个氨基酸。前24个氨基酸由外显子1编码，在14种脊椎动物中高度保守。第二个密码子的纯合突变（TGC-> TAC）显示出与所测试的18种不同狗品种/犬种中的疾病完全一致。在孟加拉国的具有常染色体隐性RP的人类患者中鉴定出相同的纯合突变。表达研究支持了该基因在视网膜中的主要表达，在视网膜色素上皮，感光细胞和神经节细胞层中的表达相同。这项研究提供了有力的证据，证明新基因PRCD中的突变是犬和人中常染色体隐性视网膜变性的原因。

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