ArticleScientific reports2018
Phylogenetic and mutational analyses of human LEUTX, a homeobox gene implicated in embryogenesis.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
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- RNA sequencing of mRNA 5'-ends reveals regulators of bovine embryonic genome activation.BMC genomics · 2025Article
- Rise and SINE: roles of transcription factors and retrotransposons in zygotic genome activation.Nature reviews. Molecular cell biology · 2025Article
- Molecular cloning of PRD-like homeobox genes expressed in bovine oocytes and early IVF embryos.BMC genomics · 2024Article
- Kick-starting the zygotic genome: licensors, specifiers, and beyond.EMBO reports · 2024Review
- Interaction network of human early embryonic transcription factors.EMBO reports · 2024Article
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- Pediatric-type high-grade neuroepithelial tumors with CIC gene fusion share a common DNA methylation signature.NPJ precision oncology · 2023Article
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- PRD-Class Homeobox Genes in Bovine Early Embryos: Function, Evolution, and Overlapping Roles.Molecular biology and evolution · 2022Article
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- Dynamic Molecular Evolution of Mammalian Homeobox Genes: Duplication, Loss, Divergence and Gene Conversion Sculpt PRD Class Repertoires.Journal of molecular evolution · 2021Article
- Relationship of DUX4 and target gene expression in FSHD myocytes.Human mutation · 2021Article
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Authors and funding
8 authors at 5 institutions in 6 countries.
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Abstract
Recently, human PAIRED-LIKE homeobox transcription factor (TF) genes were discovered whose expression is limited to the period of embryo genome activation up to the 8-cell stage. One of these TFs is LEUTX, but its importance for human embryogenesis is still subject to debate. We confirmed that human LEUTX acts as a TAATCC-targeting transcriptional activator, like other K50-type PAIRED-LIKE TFs. Phylogenetic comparisons revealed that Leutx proteins are conserved across Placentalia and comprise two conserved domains, the homeodomain, and a Leutx-specific domain containing putative transcriptional activation motifs (9aaTAD). Examination of human genotype resources revealed 116 allelic variants in LEUTX. Twenty-four variants potentially affect function, but they occur only heterozygously at low frequency. One variant affects a DNA-specificity determining residue, mutationally reachable by a one-base transition. In vitro and in silico experiments showed that this LEUTX mutation (alanine to valine at position 54 in the homeodomain) results in a transactivational loss-of-function to a minimal TAATCC-containing promoter and a 36 bp motif enriched in genes involved in embryo genome activation. A compensatory change in residue 47 restores function. The results support the notion that human LEUTX functions as a transcriptional activator important for human embryogenesis.
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