Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right and asymmetry

被引：390

作者：

Olbrich, H

Häffner, K

Kispert, A

Völkel, A

Volz, A

Sasmaz, G

Reinhardt, R

Hennig, S

Lehrach, H

Konietzko, N

Zariwala, M

Noone, PG

Knowles, M

Mitchison, HM

Meeks, M

Chung, EMK

Hildebrandt, F

Sudbrak, R

Omran, H

机构：

[1] Univ Freiburg, Dept Pediat & Adolescent Med, D-79106 Freiburg, Germany

[2] Med Hochschule Hannover, Hannover, Germany

[3] Max Planck Inst Mol Genet, Berlin, Germany

[4] Ruhrland Klin, Essen, Germany

[5] Univ N Carolina, Chapel Hill, NC USA

[6] Royal Free & UCL, Dept Paediat & Child Hlth, London, England

来源：

NATURE GENETICS | 2002年 / 30卷 / 02期

关键词：

D O I：

10.1038/ng817

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：143 / 144

页数：2

共 15 条

[1]

Afzelius B., 1995, The Metabolic and Molecular Bases of Inherited Disease, P3943

[2]

ASDAI J, 2001, TRENDS CELL BIOL, V11, P196

[3] Mutation of the mouse hepatocyte nuclear factor forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry [J].