Protein-coding gene in the species Homo sapiens
Dynein axonemal heavy chain 1 is a protein that in humans is encoded by the DNAH1 gene .
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Function
This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017].
References
Further reading
Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta C (2008). "Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia" . Hum. Reprod . 23 (8): 1957–62. doi :10.1093/humrep/den193 PMID 18492703 . Lehmann M, Milev MP, Abrahamyan L, Yao XJ, Pante N, Mouland AJ (2009). "Intracellular transport of human immunodeficiency virus type 1 genomic RNA and viral production are dependent on dynein motor function and late endosome positioning" . J. Biol. Chem . 284 (21): 14572–85. doi :10.1074/jbc.M808531200 PMC 2682905 PMID 19286658 . Skånland SS, Wälchli S, Brech A, Sandvig K (2009). "SNX4 in complex with clathrin and dynein: implications for endosome movement" . PLOS ONE . 4 (6): e5935. Bibcode :2009PLoSO...4.5935S . doi :10.1371/journal.pone.0005935 PMC 2691479 PMID 19529763 . Ben Khelifa M, Coutton C, Zouari R, Karaouzène T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Touré A, Arnoult C, Ray PF (2014). "Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella" . Am. J. Hum. Genet . 94 (1): 95–104. doi :10.1016/j.ajhg.2013.11.017 . PMC 3882734 PMID 24360805 . Imtiaz F, Allam R, Ramzan K, Al-Sayed M (2015). "Variation in DNAH1 may contribute to primary ciliary dyskinesia" . BMC Med. Genet . 16 : 14. doi :10.1186/s12881-015-0162-5 PMC 4422061 PMID 25927852 . Wang X, Jin H, Han F, Cui Y, Chen J, Yang C, Zhu P, Wang W, Jiao G, Wang W, Hao C, Gao Z (2017). "Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese" . Clin. Genet . 91 (2): 313–321. doi :10.1111/cge.12857 PMID 27573432 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
