Journal
JOURNAL OF HUMAN GENETICS
Volume 59, Issue 5, Pages 288-291Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2014.6
Keywords
apoptosis; lifeguard; Neanderthal; pseudogene; selection; testis
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- CRG in Barcelona
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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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