Search bioRxiv⌕ Search

Biology subjects

Hammoud, H.

Publications and source records attributed to Hammoud, H..

3 recordsLinked to original sources

Increased variability and reduced phenotypic robustness in clonal Drosophila mercatorum

Quantitative genetics predicts that reducing genetic variability should reduce phenotypic variability, a common principle that underlies the widespread use of inbred, isogenic, and clonal animals in biomedical research. Yet extreme homozygosity can also expose recessive deleterious alleles and detoriate developmental buffering, potentially destabilizing rather than canalizing phenotypic outcomes. We tested this conflict directly in Drosophila mercatorum, a facultatively parthenogenic fly species in which pronuclear duplication results in fully homozygous, clonal offspring already after a single generation. Contrary to the expectation that genetic uniformity should reduce phenotypic variability, clonal parthenogenic flies showed changes in trait means, trait-dependent changes in interindividual variation, increased fluctuating asymmetry, and, most consistently, reduced behavioral and developmental canalization across a broad set of parameters. These effects on phenotypes spanned visually guided locomotion, circadian activity, wing morphology, bristle patterning, eye anatomy, brain volume, and serotonergic neuron numbers and were associated with reduced survival under environmental stress. Inbreeding of sexual D. mercatorum reproduced several of these phenotypic changes, whereas a single generation of outcrossing restored phenotypic robustness and the resulting F1 hybrids even exceeded the wild-type controls in several traits, consistent with a hybrid vigor effect. Together, these experiments identify loss of heterozygosity, rather than clonality per se, as the primary driver of developmental instability. Our findings show that genetic uniformity achieved through homozygosity can amplify stochastic phenotypic divergence by weakening developmental canalization, and suggest that the genetic context in which experimental standardization is achieved, especially heterozygosity, matters as much as the degree of genetic uniformity itself.

genetics↗

Homozygosity for rare or common hypomorphic IL23R variants confers a predisposition to tuberculosis in humans

Homozygosity for rare loss-of-function IL23R variants abolishes IL-23-dependent IFN-{gamma} production by lymphocytes, including NK and innate-like T cells, thereby underlying clinical disease due to weakly virulent mycobacterial species. We report selective enrichment in homozygosity for four hypomorphic IL23R variants in our cohort of patients with tuberculosis. Three of these IL23R alleles are rare (G300V, G149R, and L372F), with a minor allele frequency (MAF) under 1%, but the fourth (R381Q) is surprisingly common, with an MAF as high as 10.2% in certain populations. The other 15 missense alleles found in the homozygous state in public databases are isomorphic. The four hypomorphic IL-23R variants identified dimerize with IL-12R{beta}1 and bind IL-23. However, their function is impaired by low levels of cell surface expression (R381Q, G300V) and/or as a consequence of conformational changes altering agonist efficacy. IFN-{gamma} production in response to IL-23 is impaired in innate-like T cells and NK cells. These data suggest that recessive partial IL-23R deficiency, whether due to rare or common variants, confers a predisposition to tuberculosis while preserving immunity to less virulent mycobacteria. One sentence summaryHomozygous hypomorphic IL23R variants impair IL-23-dependent IFN-{gamma} production and underlie tuberculosis.

genetics↗

GABA, glucose and insulin orchestrate CD4+ T cells effector functions

Metabolic programs of immune cells are closely linked to their effector functions. Physiological molecules including glucose, insulin and {gamma}-aminobutyric acid (GABA) provide environmental cues and guidance, although how they coordinate to regulate the cells is still being unraveled. Here, we demonstrate that GABA-mediated reduction of metabolic activity and release of inflammatory molecules, including IFN{gamma} and IL-10, was abolished in human CD4+ T cells when the glucose concentration was elevated above normal levels. Insulin enhanced the GABAA receptors-mediated currents and Ca2+ influx. GABA decreased, whereas insulin sustained glycolysis but in a SGLT (Na+-glucose transporter)-dependent manner. In high glucose (16.7 mM), the SGLTs antagonist phlorizin alone or together with GABA restored the inhibition of IFN{gamma} and IL-10 release. This study exposes concerted effects of GABA, glucose and insulin on CD4+ T cells metabolic activity and release of inflammatory molecules, and identifies a role for SGLTs in CD4+ T cells function.

physiology↗