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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella
American Journal of Human Genetics, Volume 94, No. 1, Year 2014
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Description
Ten to fifteen percent of couples are confronted with infertility and a male factor is involved in approximately half the cases. A genetic etiology is likely in most cases yet only few genes have been formally correlated with male infertility. Homozygosity mapping was carried out on a cohort of 20 North African individuals, including 18 index cases, presenting with primary infertility resulting from impaired sperm motility caused by a mosaic of multiple morphological abnormalities of the flagella (MMAF) including absent, short, coiled, bent, and irregular flagella. Five unrelated subjects out of 18 (28%) carried a homozygous variant in DNAH1, which encodes an inner dynein heavy chain and is expressed in testis. RT-PCR, immunostaining, and electronic microscopy were carried out on samples from one of the subjects with a mutation located on a donor splice site. Neither the transcript nor the protein was observed in this individual, confirming the pathogenicity of this variant. A general axonemal disorganization including mislocalization of the microtubule doublets and loss of the inner dynein arms was observed. Although DNAH1 is also expressed in other ciliated cells, infertility was the only symptom of primary ciliary dyskinesia observed in affected subjects, suggesting that DNAH1 function in cilium is not as critical as in sperm flagellum. © 2014 The American Society of Human Genetics.
Authors & Co-Authors
Ben Khelifa, Mariem
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Cnrs Fre3405
Tunisia, Tunis
Institut Pasteur de Tunis
Coutton, Charles
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Cnrs Fre3405
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Zouari, Raoudha
Tunisia, Tunis
Clinique Des Jasmins
Karaouzène, Thomas
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Cnrs Fre3405
Rendu, John
France, Saint Martin D'heres
Université Grenoble Alpes
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, La Tronche
Grenoble Institut Des Neurosciences
Bidart, Marie
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Grenoble Institut Des Neurosciences
Yassine, Sandra
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Cnrs Fre3405
Pierre, Virginie
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Cnrs Fre3405
Delaroche, Julie
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Grenoble Institut Des Neurosciences
Hennebicq, Sylviane
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Cnrs Fre3405
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Grunwald, Didier
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Grenoble Institut Des Neurosciences
Escalier, Denise
France, Paris
Maladies Génétiques D’expression Pédiatrique
Pernet-Gallay, Karin
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Grenoble Institut Des Neurosciences
Jouk, Pierre Simon
France, Saint Martin D'heres
Université Grenoble Alpes
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Thierry-Mieg, Nicolas
France, Saint Martin D'heres
Université Grenoble Alpes
Touré, Aminata
France, Paris
Institut Cochin
France, Paris
Cnrs Centre National de la Recherche Scientifique
France, Paris
Université Paris Cité
Arnoult, Christophe
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Cnrs Fre3405
Ray, Pierre F.
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Cnrs Fre3405
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Statistics
Citations: 316
Authors: 18
Affiliations: 10
Identifiers
Doi:
10.1016/j.ajhg.2013.11.017
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Cancer
Genetics And Genomics
Sexual And Reproductive Health
Study Design
Cohort Study
Participants Gender
Male