The genetic architecture of morphological abnormalities of the sperm tail
| Autor: | Pierre F. Ray, Guillaume Martinez, Charles Coutton, Zine-Eddine Kherraf, Julie Beurois, Caroline Cazin, Christophe Arnoult, Aminata Touré |
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| Přispěvatelé: | Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Descartes, Paris, France |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Male
Axoneme [SDV]Life Sciences [q-bio] Flagellum Biology Asthenozoospermia Male infertility 03 medical and health sciences Organelle Genetics medicine Animals Humans Genetics (clinical) Sperm motility Infertility Male ComputingMilieux_MISCELLANEOUS 030304 developmental biology 0303 health sciences Sperm flagellum urogenital system 030305 genetics & heredity medicine.disease Sperm Phenotype Spermatozoa Cell biology Flagella Sperm Tail Mutation Sperm Motility |
| Zdroj: | Human Genetics Human Genetics, Springer Verlag, 2020, ⟨10.1007/s00439-020-02113-x⟩ |
| ISSN: | 0340-6717 1432-1203 |
| DOI: | 10.1007/s00439-020-02113-x⟩ |
| Popis: | Spermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a sperm-specific organelle required to generate the motility, which is essential to reach the egg. The flagellum integrity is, therefore, critical for normal sperm function and flagellum defects consistently lead to male infertility due to reduced or absent sperm motility defined as asthenozoospermia. Multiple morphological abnormalities of the flagella (MMAF), also called short tails, is among the most severe forms of sperm flagellum defects responsible for male infertility and is characterized by the presence in the ejaculate of spermatozoa being short, coiled, absent and of irregular caliber. Recent studies have demonstrated that MMAF is genetically heterogeneous which is consistent with the large number of proteins (over one thousand) localized in the human sperm flagella. In the past 5 years, genomic investigation of the MMAF phenotype allowed the identification of 18 genes whose mutations induce MMAF and infertility. Here we will review information about those genes including their expression pattern, the features of the encoded proteins together with their localization within the different flagellar protein complexes (axonemal or peri-axonemal) and their potential functions. We will categorize the identified MMAF genes following the protein complexes, functions or biological processes they may be associated with, based on the current knowledge in the field. |
| Databáze: | OpenAIRE |
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