No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).

A K Maiti, L Bartoloni, H M Mitchison, M Meeks, E Chung, S Spiden, C Gehrig, C Rossier, C D DeLozier-Blanchet, J Blouin, R M Gardiner, S E Antonarakis
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引用次数: 35

Abstract

The transcription factor FOXJ1 (alias HFH-4 or FKHL13) of the winged-helix/forkhead family is expressed in cells with cilia or flagella, and seems to be involved in the regulation of axonemal structural proteins. The knockout mouse Foxj1(-/-) shows abnormalities of organ situs, consistent with random determination of left-right asymmetry, and a complete absence of cilia. The human FOXJ1 gene which maps to chromosome 17q, is thus an excellent candidate gene for Kartagener Syndrome (KS), a subphenotype of Primary Ciliary Dyskinesia (PCD), characterized by bronchiectasis, chronic sinusitis and situs inversus. We have collected samples from 61 PCD families, in 31 of which there are at least two affected individuals. Two families with complete aciliogenesis, and six families, in which the affected members have microsatellite alleles concordant for a locus on distal chromosome 17q, were screened for mutations in the two exons and intron-exon junctions of the FOXJ1 gene. No sequence abnormalities were observed in the DNAs of the affected individuals of the selected families. These results demonstrate that the FOXJ1 gene is not responsible for the PCD/KS phenotype in the families examined.

原发性纤毛运动障碍(PCD)患者FOXJ1(别名hhh -4)基因无有害突变。
翼状螺旋/叉头家族的转录因子FOXJ1(别名hhh -4或FKHL13)在有纤毛或鞭毛的细胞中表达,似乎参与轴突结构蛋白的调控。敲除小鼠Foxj1(-/-)显示器官位置异常,与随机确定的左右不对称一致,完全没有纤毛。人类FOXJ1基因位于染色体17q上,因此是Kartagener综合征(KS)的一个极好的候选基因,KS是原发性纤毛运动障碍(PCD)的一种亚表型,以支气管扩张、慢性鼻窦炎和鼻窦反位为特征。我们从61个PCD家庭收集了样本,其中31个家庭至少有两名患者。筛选FOXJ1基因的两个外显子和内含子-外显子连接突变的两个完全毛囊发生家族和6个受影响成员在远端染色体17q上具有微卫星等位基因一致性的家族。在所选家庭的受影响个体的dna中未观察到序列异常。这些结果表明FOXJ1基因与PCD/KS表型无关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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