Pseudogenization of testis-specific Lfg5 predates human/Neanderthal divergence
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Updated: May 2, 2026

Germ Cell Transplantation and Testis Tissue Xenografting in Mice
Published on: February 6, 2012
Marco Mariotti1, Temple F Smith2, Peter H Sudmant3
1Center for Genomic Regulation, Barcelona, Spain.
Abstract:
Recent reviews discussed the critical roles of apoptosis in human spermatogenesis and infertility. These reviews highlight the FasL-induced caspase cascade in apoptosis lending importance to our discovery of the pseudogene status of the Lfg5 gene in modern humans, Neanderthal and the Denisovan. This gene is a member of the ancient and highly conserved apoptosis Lifeguard family. This pseudogenization is the result of a premature stop codon at the 3'-end of exon 8 not found in any other ortholog. With the current exception of the domesticated bovine and buffalo, Lfg5's expression in mammals is testis-specific. A full analysis of this gene, its phylogenetic context and its recent hominin changes suggest its inactivation was likely under selection in human evolution.
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