Can Unlikely Neanderthal Chloride Channel CLC-2 Gene Variants Provide Insights in Modern Human Infertility?
- 19 June 2021
- journal article
- research article
- Published by Cell Physiol Biochem Press GmbH and Co KG in Cellular Physiology and Biochemistry
- Vol. 55 (3), 301-310
- https://doi.org/10.33594/000000376
Abstract
Background/Aims: Neanderthals, although well adapted to local environments, were rapidly replaced by anatomically modern humans (AMH) for unknown reasons. Genetic information on Neanderthals is limited restricting applicability of standard population genetics. Methods: Here, we apply a novel combination of restricted genetic analyses on preselected physiological key players (ion channels), electrophysiological analyses of gene variants of unclear significance expressed in Xenopus laevis oocytes using two electrode voltage clamp and transfer of results to AMH genetics. Using genetic screening in infertile men identified a loss of CLC-2 associated with sperm deficiency. Results: Increased genetic variation caused functionally impaired Neanderthals CLC-2 channels. Conclusion: Increased genetic variation could reflect an adaptation to different local salt supplies at the cost of reduced sperm density. Interestingly and consistent with this hypothesis, lack of CLC-2 protein in a patient associates with high blood K+ concentration and azoospermia. (c) 2021 The Author(s). Published by Cell Physiol Biochem Press GmbH&Co. KGThis publication has 32 references indexed in Scilit:
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