Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: exclusion from a causative role in the pathogenesis of Treacher Collins syndrome.
Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: exclusion from a causative role in the pathogenesis of Treacher Collins syndrome.
复制标题
人硫酸乙酰肝素-N-脱乙酰酶/N-磺基转移酶基因的基因组组织：排除特雷彻·柯林斯综合征发病机制中的致病作用。
DOI：
10.1006/geno.1996.0145
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发表时间：
1996
期刊：
影响因子：
4.4
通讯作者：
Dixon,MJ
中科院分区：
文献类型：
--
作者：
Gladwin,AJ;Dixon,J;Loftus,SK;Wasmuth,JJ;Dixon,MJ
硫酸乙酰肝素- n -去乙酰化酶/ n -磺基转移酶（HSST）催化硫酸乙酰肝素的去乙酰化和硫酸乙酰化。先前的研究已经从5q上的Treacher Collins综合征位点（TCOF1）关键区域分离出了人类HSST基因。在本研究中，已经阐明了HSST基因的基因组组织，并对鉴定的14个外显子进行了tcof1特异性突变检测。由于这些研究的结果，编码序列和相邻剪接连接内的突变可以排除在Treacher Collins综合征发病机制中的致病作用。
Heparan sulfate-N-deacetylase/N-sulfotransferase (HSST) catalyzes both theN-deacetylation and theN-sulfation of heparan sulfate. Previous studies have resulted in the isolation of the human HSST gene from within the Treacher Collins syndrome locus (TCOF1) critical region on 5q. In the present study, the genomic organization of the HSST gene has been elucidated, and the 14 exons identified have been tested for TCOF1-specific mutations. As a result of these studies, mutations within the coding sequence and adjacent splice junctions of HSST can be excluded from a causative role in the pathogenesis of Treacher Collins syndrome.