Dohlman HG (2016) J Biol Chem "Thematic Minireview Series: Complexities of Cellular Signaling Revealed by Simple Model Organisms."

Dohlman HG

[J Biol Chem, 2016]

All cells discriminate environmental signals and generate appropriate intracellular responses. Our understanding of these signal transduction mechanisms has benefitted from studies across the kingdoms of life, from fungi and fish to mice and men. This thematic minireview series examines lessons learned from three of the simplest (and best understood) eukaryotic model organisms. The first article focuses on the mating pheromone pathway in budding yeastSaccharomyces cerevisiae The second describes stress-mediated signaling in the roundwormCaenorhabditis elegans The third outlines some of the signaling pathways that dictate growth and development in the fruit flyDrosophila melanogaster Each system has provided unique insights into hormone and neurotransmitter signaling mechanisms, in particular those mediated by the MAPKs. The advances described in these articles will continue to improve our understanding of human physiology and pharmacology.

Alison M (2009) J Pathol "Stem cells in pathobiology and regenerative medicine."

Alison M

[J Pathol, 2009]

This issue of the Journal of Pathology contains 16 articles largely dealing with the role of tissue-specific adult stem cells in the pathogenesis of disease, notably cancer. These authoritative reviews begin by describing the current knowledge regarding the identity and molecular regulation of normal tissue-specific stem cells, before itemizing their role in the aetiology and progression of disease. Fundamental concepts regarding the stem cell niche have been gleaned from studies of germ line stem cells in Drosophila and Caenorhabditis elegans, and these are described in detail in this issue. Somatic cell reprogramming, a process underlying not only therapeutic cloning but also the production of induced pluripotent stem (iPS) cells, is further discussed. Much attention is given to embryonic stem (ES) and iPS cells within the scientific community; this issue of the Journal of Pathology redresses this imbalance by illustrating the pivotal role of adult stem cells in much of human disease. Copyright (c) 2008 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Billi AC et al. (2012) Genome Biol "piRNAs and siRNAs collaborate in Caenorhabditis elegans genome defense."

Freeberg MA, Kim JK, Billi AC

[Genome Biol, 2012]

Caenorhabditis elegans piRNAs promote genome surveillance by triggering siRNA-mediated silencing of nonself DNA in competition with licensing programs that support endogenous gene expression.

Suzuki H et al. (2020) Am J Med Genet A "Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures."

Takenouchi T, Inaba M, Suzuki H, Doi M, Kosaki K, Mizuno S, Uehara T, Yamada M

[Am J Med Genet A, 2020]

The heterozygous deletion of 15q13.3 is a recurrently observed microdeletion syndrome associated with a relatively mild phenotype including learning disability and language impairment. In contrast, the homozygous deletion of 15q13.3 is extremely rare and is associated with a much severer phenotype that includes epileptic encephalopathy, profound intellectual disability, and hypotonia. Which of the genes within the deleted interval is responsible for the more severe features when biallelically deleted is currently unknown. Here, we report a patient with profound hypotonia, severe intellectual disability, and seizures who had biallelic loss-of-function variants in OTUD7A: a 15q13.3 deletion including the OTUD7A locus, and a frameshift OTUD7A variant c.1125del, p.(Glu375Aspfs*11). Unexpectedly, both aberrations occurred de novo. Our experiment using Caenorhabditis elegans showed that worms carrying a corresponding homozygous variant in the homolog OTUB-2 exhibited weakened muscle contraction suggestive of aberrant neuromuscular transmission. We concluded that the biallelic complete loss of OTUD7A in humans represents a presumably new autosomal recessive disorder characterized by profound hypotonia, severe intellectual disability, and seizures.

Marre J et al. (2017) Mol Reprod Dev "Inheritance of extracellular nutrition and information in Caenorhabditis elegans."

Jose A, Marre J

[Mol Reprod Dev, 2017]

Silencing by RNA interference, triggered using double-stranded RNA (dsRNA), is transmitted from parent to progeny in some animals. We examined the mechanism of this inheritance by delivering fluorescent dsRNA (magenta) into the body cavity of the worm Caenorhabditis elegans. The fluorescent dsRNA permeates interstitial spaces between cells, and can be seen within invaginations of the syncytial germ line and between sperm within the spermatheca. This article is protected by copyright. All rights reserved.