Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right and asymmetry
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right and asymmetry
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DOI：
10.1038/ng817
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发表时间：
2002-02-01
期刊：
影响因子：
30.8
通讯作者：
Omran, H
中科院分区：
文献类型：
--
作者：
Olbrich, H;H채ffner, K;Omran, H
原发性纤毛运动障碍（PCD，MIM 242650）的特征是由于粘液纤毛清除率降低和精子不动而导致的呼吸道复发性感染。受影响的后代中有一半患有内脏逆位（颠倒的器官），这是由左右（LR）不对称的随机化造成的（1）。我们先前将含有DNAH 5的PCD基因座定位于染色体5 p，DNAH 5编码与衣原体γ-动力蛋白重链高度相似的蛋白质（2）。在这里，我们的特点是全长14 kb的转录DNAH 5。在具有LR不对称随机化的PCD个体中的序列分析鉴定了导致非功能性DNAH 5蛋白的突变。
Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the affected offspring have situs inversus (reversed organs), which results from randomization of left-right (LR) asymmetry(1). We previously localized to chromosome 5p a PCD locus containing DNAH5, which encodes a protein highly similar to the Chlamydomonas gamma-dynein heavy chain(2). Here we characterize the full-length 14-kb transcript of DNAH5. Sequence analysis in individuals with PCD with randomization of LR asymmetry identified mutations resulting in non-functional DNAH5 proteins.