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Human Molecular Genetics, 2001, Vol. 10, No. 11 1117-1128
© 2001 Oxford University Press

Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency

Juergen Neesen1,+, Renate Kirschner1, Matthias Ochs2, Andreas Schmiedl2, Barbara Habermann3, Christian Mueller1, Adolf Friedrich Holstein4, Thomas Nuesslein5, Ibrahim Adham1 and Wolfgang Engel1

1Institute of Human Genetics, University of Goettingen, Heinrich-Dueker-Weg12, 37073 Goettingen, Germany, 2Division of Electron Microscopy, Center of Anatomy, University of Goettingen, 37073 Goettingen, Germany, 3Department of Andrology, Clinical Training Center of the European Academy of Andrology, School of Medicine, Philipps University, 35039 Marburg an der Lahn, Germany, 4Institute of Anatomy, University of Hamburg, 20246 Hamburg, Germany and 5Children’s Hospital of the Ruhr—University Bochum, 44791 Bochum, Germany

Impaired ciliary and flagellar functions resulting in male infertility and recurrent respiratory tract infections are found in patients suffering from primary ciliary dyskinesia (PCD). In most cases, axonemal defects are present, i.e. PCD patients often lack inner and/or outer dynein arms in their sperm tails and cilia, supporting the hypothesis that mutations in dynein genes may cause PCD. However, to date it is unclear whether mutations in dynein heavy chain genes are responsible for impaired flagellar and ciliary motility in mammals. To elucidate the role of the mouse dynein heavy chain 7 (MDHC7) gene, which encodes a component of the inner dynein arm, we have generated mice lacking this dynein heavy chain isoform. Both MDHC7+/– and MDHC7–/– mice are viable and show no malformations; however, homozygous males produce no offspring. In comparison to MDHC7+/– and wild-type mice the spermatozoa of MDHC7–/– mice revealed a dramatic reduced straight line velocity and progressive movement, resulting in the inability of MDHC7-deficient sperm to move from the uterus into the oviduct. Additionally, we measured the beat frequency of tracheal cilia and observed a decrease in the beat frequency of ~50% in MDHC7–/– mice. The reduction in both ciliary and flagellar motility is not correlated with any gross defects in the axonemal structure. The phenotype of MDHC7–/– mice is similar to that observed in some patients suffering from PCD, and our data strongly suggest that in some patients this disease could be due to mutations in the homologous human gene DNAH1 (HDHC7).

+ To whom correspondence should be addressed. Tel: +49 551 397598; Fax: +49 551 399303; Email: jneesen@gwdg.de


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