title: Pseudogenization of testis-specific Lfg5 predates human/Neanderthal divergence.
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.
authors.affiliation: Center for Genomic Regulation, Barcelona, Spain.
authors.forename: Marco
authors.initials: M
authors.lastname: Mariotti
authors.affiliation: Department of BioMedical Engineering, Boston University, Boston, MA, USA.
authors.forename: Temple F
authors.initials: TF
authors.lastname: Smith
authors.affiliation: Department of Genome Sciences, University of Washington, Seattle, WA, USA.
authors.forename: Peter H
authors.initials: PH
authors.lastname: Sudmant
authors.affiliation: Department of Psychiatry, Beth Israel Deaconess Medical Center, BSHC, Boston, MA, USA.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Goldberger
mesh_terms: D000818:Animals; D019143:Evolution, Molecular; D005091:Exons; D023281:Genomics; D006801:Humans; D007438:Introns; D008297:Male; D005810:Multigene Family; D009154:Mutation; D059125:Neanderthals / Q000235:genetics*; D009928:Organ Specificity / Q000235:genetics*; D010802:Phylogeny; D013737:Testis / Q000378:metabolism*