Molecular cloning of the vasotocin gene of a cyclostome, the Pacific hagfish Eptatretus stouti, reveals, in contrast to other known members of the vertebrate vasopressin/oxytocin hormone gene family, an unusual exon-intron organization. Although the location of three exons and two introns is conserved, an additional intron is present 5' of the coding region of the hagfish gene. The third intron, which is greater than 14 kilobase pairs in size, contains on the opposite DNA strand to that encoding vasotocin an open reading frame exhibiting striking similarity to the putative transposase of Tc1-like nonretroviral mobile genetic DNA elements, so far reported only from nematodes and Drosophila. The hagfish element, called Tes1, is flanked by inverted terminal repeats representing an example of the existence of a typical inverted terminal-repeat transposon within vertebrates. The presence of Tc1-like elements in nematodes, Drosophila, and cyclostomes indicates that these genetic elements have a much broader phylogenetic distribution than hitherto expected.
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http://dx.doi.org/10.1073/pnas.89.15.6798 | DOI Listing |
Genetics
December 2024
Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853, USA.
Congenital disorders of glycosylation (CDG) comprise a class of inborn errors of metabolism resulting from pathogenic variants in genes coding for enzymes involved in the asparagine-linked glycosylation of proteins. Unexpectedly to date, no CDG has been described for , encoding the alpha-1,2-glucosyltransferase catalyzing the final step of lipid-linked oligosaccharide biosynthesis. Genome-wide association studies (GWAS) of human traits in the UK Biobank revealed significant SNP associations with short sleep duration, reduced napping frequency, later sleep timing and evening diurnal preference as well as cardiac traits at a genomic locus containing a pair of paralogous enzymes and .
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February 2025
Department of Biology, Haverford College, 370 Lancaster Ave, Haverford, PA, 19041, USA. Electronic address:
Sedimentation velocity, using an analytical ultracentrifuge equipped with fluorescence detection, and electrophoresis methods are used to study aggregation of proteins in transgenic animal model systems. Our previous work validated the power of this approach in an analysis of mutant huntingtin aggregation. We demonstrate that this method can be applied to another neurodegenerative disease studying the aggregation of three dipeptide repeats (DPRs) produced by aberrant translation of mutant c9orf72 containing large GC hexanucleotide repeats.
View Article and Find Full Text PDFFood Chem
February 2025
Department of Toxicology, School of Public Health, Anhui Medical University, Hefei, China; Key Laboratory of Environmental Toxicology of Anhui Higher Education Institutes, Hefei, China. Electronic address:
Rodent models have traditionally been used to assess the toxicity of food chemicals, but this approach is costly, time-consuming, and raises ethical concerns. Alternatively, non-mammalian models such as Drosophila melanogaster, Danio rerio, and Caenorhabditis elegans have been shown to be suitable for studying the toxicity of food hazards. Their advantages include low cost, short life cycles, adaptability to high-throughput screening, and adherence to the 3R principles of replacement, reduction, and refinement.
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