Mosaicism of dynein in spermatozoa and cilia and fibrous sheath aberrations in an infertile man. 1983

H Walt, and A Campana, and M Balerna, and G Domenighetti, and C Hedinger, and M Jakob, and G Pescia, and A Sulmoni

Male patients displaying an immotile or almost immotile sperm population are the object of an interdisciplinary study concerning a ciliary mutant that induces the "Immotile-Cilia Syndrome". Development and function of both sperm flagella and cilia are normally affected because of disturbances of the 9 + 2-arrangement. During this program, clinical, physiological, genetical and ultrastructural investigations were done. The ultrastructure of immotile spermatozoa of an infertile man did not reveal inner and outer dynein arms. Lack of the ATPase dynein which is essential for movement of the 9 + 2-axoneme, is typical for the above syndrome. In addition, symmetry of the fibrous sheath of the spermatozoa was very abnormal. The pneumologist examined normal lung function, where the ultrastructure of the cilia of the nasal mucosa displayed the dynein arms. Analysis of family tree and chromosomes by the geneticist also gave a normal result. As revealed by this infertile patient it seems likely that expression of dynein must not be identical in both germ cells and somatic cells. Such variations are therefore regarded as additional forms of the "Immotile-Cilia syndrome". Asymmetric fibrous sheaths are thought to be a result of immotile spermatid flagella, leading to an abnormal arrangement of the accessory axonemal structures. Normal early spermatid flagella of man and rat show specific movements.

UI MeSH Term Description Entries
D007248 Infertility, Male The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility. Sterility, Male,Sub-Fertility, Male,Subfertility, Male,Male Infertility,Male Sterility,Male Sub-Fertility,Male Subfertility,Sub Fertility, Male
D008297 Male Males
D008854 Microscopy, Electron Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen. Electron Microscopy
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D009297 Nasal Mucosa The mucous lining of the NASAL CAVITY, including lining of the nostril (vestibule) and the OLFACTORY MUCOSA. Nasal mucosa consists of ciliated cells, GOBLET CELLS, brush cells, small granule cells, basal cells (STEM CELLS) and glands containing both mucous and serous cells. Nasal Epithelium,Schneiderian Membrane,Epithelium, Nasal,Membrane, Schneiderian,Mucosa, Nasal
D002923 Cilia Populations of thin, motile processes found covering the surface of ciliates (CILIOPHORA) or the free surface of the cells making up ciliated EPITHELIUM. Each cilium arises from a basic granule in the superficial layer of CYTOPLASM. The movement of cilia propels ciliates through the liquid in which they live. The movement of cilia on a ciliated epithelium serves to propel a surface layer of mucus or fluid. (King & Stansfield, A Dictionary of Genetics, 4th ed) Motile Cilia,Motile Cilium,Nodal Cilia,Nodal Cilium,Primary Cilia,Primary Cilium,Cilium,Cilia, Motile,Cilia, Nodal,Cilia, Primary,Cilium, Motile,Cilium, Nodal,Cilium, Primary
D002925 Ciliary Motility Disorders Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms. Ciliary Dyskinesia,Ciliary Dyskinesia, Primary,Immotile Cilia Syndrome,Primary Ciliary Dyskinesia,Ciliary Dyskinesias,Ciliary Motility Disorder,Disorder, Ciliary Motility,Dyskinesia, Ciliary,Dyskinesia, Primary Ciliary,Immotile Cilia Syndromes
D004398 Dyneins A family of multi-subunit cytoskeletal motor proteins that use the energy of ATP hydrolysis, generated by a ring of AAA ATPASES in the dynein heavy chain, to power a variety of cellular functions. Dyneins fall into two major classes based upon structural and functional criteria. ATPase, Dynein,Adenosinetriphosphatase, Dynein,Dynein,Dynein ATPase,Dynein Adenosinetriphosphatase,Dynein Heavy Chain,Dynein Intermediate Chain,Dynein Light Chain,Dynein Light Intermediate Chain,Adenosine Triphosphatase, Dynein,Dynein Heavy Chains,Dynein Intermediate Chains,Dynein Light Chains,Dynein Light Intermediate Chains,Chain, Dynein Heavy,Chain, Dynein Intermediate,Chain, Dynein Light,Chains, Dynein Heavy,Chains, Dynein Intermediate,Chains, Dynein Light,Dynein Adenosine Triphosphatase,Heavy Chain, Dynein,Heavy Chains, Dynein,Intermediate Chain, Dynein,Intermediate Chains, Dynein,Light Chain, Dynein,Light Chains, Dynein
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000251 Adenosine Triphosphatases A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA. ATPases,Adenosinetriphosphatase,ATPase,ATPase, DNA-Dependent,Adenosine Triphosphatase,DNA-Dependent ATPase,DNA-Dependent Adenosinetriphosphatases,ATPase, DNA Dependent,Adenosinetriphosphatases, DNA-Dependent,DNA Dependent ATPase,DNA Dependent Adenosinetriphosphatases,Triphosphatase, Adenosine

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