Genetical and ultrastructural aspects of the immotile-cilia syndrome. 1981

B A Afzelius

The immotile-cilia syndrome is a congenital disorder characterized by all cilia in the body being either immotile or showing an ineffective beating pattern. Most symptoms, not unexpectedly, come from the ciliated epithelia, but two further symptoms are: (1) male sterility caused by the spermatozoa being unable to swim progressively (the sperm tail has the same structure as a cilium), and (2) situs inversus in 50% of the cases possible caused by an inability of embryonic cilia to shift the heart to the left side. By electron microscopy, one can see directly which of the many ciliary components is the missing one. The molecular basis of this congenital defect can then be detected, and it has been found to be a heterogeneous disease. There are many genes that, when mutated, will cause the cilia to be dysfunctional or totally immotile. The fact that many genes may be responsible for the syndrome will also explain why it has a relatively high prevalence and why previous investigators have been unable to locate the (assumed single) gene by linkage analysis. The trait, situs inversus, is of particular interest as it occurs in only 50% of the assumed homozygotes. I conclude that the wild-type genes code for a control of the proper body asymmetry and the mutated ones for a lack of control, and, hence, to a random situs determination.

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
D007619 Kartagener Syndrome An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts. Kartagener Triad,Ciliary Dyskinesia, Primary, 1,Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus,Dextrocardia, Bronchiectasis, and Sinusitis,Kartagener's Syndrome,Kartagener's Triad,Polynesian Bronchiectasis,Siewert Syndrome,Bronchiectasis, Polynesian,Kartageners Syndrome,Kartageners Triad,Polynesian Bronchiectases,Syndrome, Kartagener,Syndrome, Kartagener's,Syndrome, Siewert
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
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
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
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
D005260 Female Females
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D005815 Genetic Code The meaning ascribed to the BASE SEQUENCE with respect to how it is translated into AMINO ACID SEQUENCE. The start, stop, and order of amino acids of a protein is specified by consecutive triplets of nucleotides called codons (CODON). Code, Genetic,Codes, Genetic,Genetic Codes

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