A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility
Zine-Eddine Kherraf, Amir Amiri-Yekta, Denis Dacheux, Thomas Karaouze`ne, Charles Coutton, Marie Christou-Kent, Guillaume Martinez, Nicolas Landrein, Pauline Le Tanno, Selima Fourati Ben Mustapha, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Karin Pernet-Gallay, Hamid Gourabi, Derrick R. Robinson, Serge Crouzy, Michael Blum, Nicolas Thierry-Mieg, Aminata Toure ́, Raoudha Zouari, Christophe Arnoult, Me ́lanie Bonhivers and Pierre F. Ray, 16.08.2018
KHERRAF, Zine-Eddine, et al. A homozygous ancestral SVA-insertion-mediated deletion in WDR66 induces multiple morphological abnormalities of the sperm flagellum and male infertility. The American Journal of Human Genetics, 2018, 103. Jg., Nr. 3, S. 400-412.
Publication: https://doi.org/10.1016/j.ajhg.2018.07.014
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The publication A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility by Zine-Eddine Kherraf, Amir Amiri-Yekta, Denis Dacheux, Thomas Karaouze`ne, Charles Coutton, Marie Christou-Kent, Guillaume Martinez, Nicolas Landrein, Pauline Le Tanno, Selima Fourati Ben Mustapha, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Karin Pernet-Gallay, Hamid Gourabi, Derrick R. Robinson, Serge Crouzy, Michael Blum, Nicolas Thierry-Mieg, Aminata Toure ́, Raoudha Zouari, Christophe Arnoult, Me ́lanie Bonhivers and Pierre F. Ray is not published under an open access license. Therefore, only content curated by the MFGA team can be shown. For abstract, images and tables please follow the link to the original publication.
Curation by the MFGA team Relevant data sets presented in the publication have been identified. If possible, annotations (title, general information, conditions, processed tissue types and processed cell types) have been added based on information from the publication.
Data set 1:
Exome: Functional Study
Species
| Species |
|---|
| human |
| Trypanosoma brucei |
Conditions
| Human phenotype ontology | Participants | Comment |
|---|---|---|
| HP:0012864: Abnormal sperm morphology | 78 | In 7 of 78 affected individuals, we identified a homozygous deletion that removes the two penultimate exons of WDR66 (also named CFAP251) |
Cell Types
| Cell ontology | Maturity | Description | Species | Replicates | Cells per replicate |
|---|---|---|---|---|---|
| CL_0000019: sperm | Adult | human |