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Mangino, M. J.

Publications and source records attributed to Mangino, M. J..

2 recordsLinked to original sources

The modular origin and evolutionary expansion of the enigmatic DGF-1 protein family in trypanosomatids

Large multigene families are a hallmark of trypanosomatid genomes and play major roles in genome plasticity and parasite adaptation. Among them, the Dispersed Gene Family 1 (DGF-1) of Trypanosoma cruzi remains one of the least understood because of its large size, repetitiveness, and fragmented annotations. Here, using a high-quality long-read assembly of T. cruzi, we performed comprehensive re-annotation and structural characterization of DGF-1. We identified seven tandemly repeated structural modules, here termed ribs, that form the extracellular region. This is followed by a distinct C-terminal membrane-associated region containing a conserved hat domain and multiple transmembrane helices. These domains are highly conserved across paralogous copies and the 7 ribs cluster according to positional identity rather than gene origin, indicating that the canonical seven-rib architecture predates the expansion of the family. DGF-1 proteins are present in the early-branching trypanosomatid species Paratrypanosoma confusum and several other trypanosomatids but absent in Leishmania and African trypanosomes, consistent with multiple independent secondary losses. Comparative analyses across Euglenozoa indicate that the DGF-1 architecture did not originate in free-living bodonids. Instead, Bodo saltans contains proteins with rib-like domains and others containing the membrane-associated region, whereas the first complete DGF-1 architecture appears in P. confusum. Phylogenetic and comparative genomic analyses indicate that the family subsequently underwent lineage-specific losses and independent expansions, the largest expansion occurring in T. cruzi. Together, these findings reconstruct the evolutionary emergence of the DGF-1 architecture from pre-existing structural modules and provide a framework for one of the largest and most enigmatic gene families in trypanosomatids.

evolutionary biology↗

Multi-omic analyses reveal antibody-dependent natural killer cell-mediated cytotoxicity in autoimmune thyroid diseases

The pathogenesis of autoimmune thyroid diseases (AITD) is poorly understood. We previously observed systemic depletion of IgG core fucosylation and antennary 1,2 fucosylation of peripheral blood mononuclear cells in AITD, correlated with thyroid peroxidase antibody (TPOAb) levels. We hypothesized that deficiency in IgG core fucose enhances antibody-dependent cell-mediated cytotoxicity of thyrocytes by TPOAb, contributing to thyroid autoimmunity. Multi-omic evaluations in 622 individuals (172 with AITD) from the TwinsUK cohort showed decreased IgG core fucosylation levels associated with a subpopulation of natural killer (NK) cells featuring CD335, CD314, and CD158b immunoreceptors, and increased levels of apoptosis-associated Caspase-2 and Interleukin-1, positively associated with AITD. AITD-associated genetic variants rs1521 and rs3094228 alter expression of thyrocyte ligands of the CD314 and CD158b immunoreceptors on NK cells. The combination of low-core fucose IgG associated with an NK cell subpopulation and genetic variant-promoted ligand activation in thyrocytes may promote antibody-dependent NK cell-mediated cytotoxicity of thyrocytes in AITD.

immunology↗