Testis factors that may regulate gene expression: evidence from a patient with Kartagener's syndrome.
Patients with Kartagener's syndrome characteristically have immotile cilia and flagella. Ultrastructural analysis of the efferent ducts of the patient described in this report revealed that the cilia totally lacked dynein arms. Based on clinical findings his respiratory cilia also were not functional. In contrast, this patient's spermatozoa were motile and displayed normal ultrastructure, including dynein arms. This suggests that two genes exist that code for slightly different proteins with analogous functions; one of these genes functions in somatic tissue and the other in the male germ tissue. Differential gene expression in somatic and male germ tissue may be related to the syncytial nature of male germ cells, low scrotal temperature, or haploid gene expression.
Phillips
D M
DM
The Population Council, New York, New York 10021, USA.
Jow
W W
WW
Goldstein
M
M
D000328:Adult; D002923:Cilia / Q000473:pathology / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000378:metabolism; D005407:Flagella / Q000648:ultrastructure; D005786:Gene Expression Regulation / Q000502:physiology*; D006801:Humans; D007619:Kartagener Syndrome / Q000378:metabolism*; D008297:Male; D008854:Microscopy, Electron; D013081:Sperm Motility / Q000502:physiology; D013082:Sperm Tail / Q000648:ultrastructure