GTDC1

Last update 08 May 2025

Basic Info

Synonyms

FLJ11753, glycosyltransferase like domain containing 1, Glycosyltransferase-like domain-containing protein 1

+ [4]

Introduction

Glycosyltransferase that specifically catalyzes mannosylation of cytoplasmic tRNA(Asp) modified with queuosine at position 34 (queuosine(34)) (PubMed:37992713). Mannosylates the cyclopentene moiety of queuosine(34) in tRNA(Asp) to form mannosyl-queuosine(34) (PubMed:37992713). Mannosylation of queuosine(34) in tRNA(Asp) is required to slow-down elongation at cognate codons, GAC and GAU, thereby regulating protein translation (PubMed:37992713).

100 Clinical Results associated with GTDC1

100 Translational Medicine associated with GTDC1

0 Patents (Medical) associated with GTDC1

Literatures (Medical) associated with GTDC1

06 Mar 2025·Genome Biology and Evolution

Genome-Wide Selection Scans in Mexican Indigenous Populations Reveal Recent Signatures of Pathogen and Diet Adaptation

Article

Author: Morett, Enrique ; Reynolds, Austin W ; Miron-Toruno, Maria Fernanda ; Aguilar-Ordonez, Israel

AbstractWhole-genome scans for natural selection signatures across Mexican indigenous populations remain underrepresented in the literature. Here, we conducted the first comparative analysis of genetic adaptation in Mexican indigenous populations using whole-genome sequencing data from 76 individuals representing 27 different ethnic groups in Mexico. We divided the cohort into northern, central, and southern populations and identified signals of natural selection within and across populations. We find evidence of adaptation to pathogenic environments in all our populations, including significant signatures in the Duffy blood group gene in central Mexican indigenous populations. Despite each region exhibiting unique local adaptation profiles, selection signatures on ARHGAP15, VGLL4, LINGO2, SYNDIG1, and TFAP2B were common to all populations. Our results also suggest that selection signatures falling within enhancers or promoters are usually connected to noncoding features, with notable exceptions like ARHGAP15 and GTDC1. This paper provides new evidence on the selection landscape of Mexican indigenous populations and lays the foundation for additional work on Mexican phenotypic characterization.

01 Aug 2024·European Journal of Human Genetics

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders

Article

Author: Errichiello, Edoardo ; Zucca, Claudio ; Bonaglia, Maria Clara ; Vantaggiato, Chiara ; Piubelli, Luciano ; Pollegioni, Loredano ; Zanotta, Nicoletta ; Motta, Zoraide ; Lecca, Mauro ; Bertuzzo, Sara

AbstractCopy number variants (CNVs) represent the genetic cause of about 15–20% of neurodevelopmental disorders (NDDs). We identified a ~67 kb de novo intragenic deletion on chromosome 2q22.3 in a female individual showing a developmental encephalopathy characterised by epilepsy, severe intellectual disability, speech delay, microcephaly, and thin corpus callosum with facial dysmorphisms. The microdeletion involved exons 5-6 of GTDC1, encoding a putative glycosyltransferase, whose expression is particularly enriched in the nervous system. In a previous study, a balanced de novo translocation encompassing GTDC1 was reported in a male child with global developmental delay and delayed speech and language development. Based on these premises, we explored the transcriptomic profile of our proband to evaluate the functional consequences of the novel GTDC1 de novo intragenic deletion in relation to the observed neurodevelopmental phenotype. RNA-seq on the proband’s lymphoblastoid cell line (LCL) showed expression changes of glycine/serine and cytokine/chemokine signalling pathways, which are related to neurodevelopment and epileptogenesis. Subsequent analysis by ELISA (enzyme-linked immunosorbent assay) and HPLC (high-performance liquid chromatography) revealed increased levels of glycine in the proband’s LCL and serum compared to matched controls. Given that an increased level of glycine has been observed in the plasma samples of individuals with Rett syndrome, a condition sharing epilepsy, microcephaly, and intellectual disability with our proband, we proposed that the GTDC1 downregulation is implicated in neurodevelopmental impairment by altering glycine metabolism. Furthermore, our findings expanded the phenotypic spectrum of the novel GTDC1-related condition, including microcephaly and epilepsy among relevant clinical features.

01 May 2024·Advanced Science

Circular RNA Gtdc1 Protects Against Offspring Osteoarthritis Induced by Prenatal Prednisone Exposure by Regulating SRSF1‐Fn1 Signaling

Article

Author: Liu, Liang ; Li, Qingxian ; Wang, Hui ; Zhang, Fan ; Zhu, Jiayong ; Hong, Yuntian ; Li, Bin ; Ma, Chi ; He, Hangyuan ; Chen, Liaobin

AbstractChondrodysplasia is closely associated with low birth weight and increased susceptibility to osteoarthritis in adulthood. Prenatal prednisone exposure (PPE) can cause low birth weight; however, its effect on offspring cartilage development remains unexplored. Herein, rats are administered clinical doses of prednisone intragastrically on gestational days (GDs) 0–20 and underwent long‐distance running during postnatal weeks (PWs) 24–28. Knee cartilage is assayed for quality and related index changes on GD20, PW12, and PW28. In vitro experiments are performed to elucidate the mechanism. PPE decreased cartilage proliferation and matrix synthesis, causing offspring chondrodysplasia. Following long‐distance running, the PPE group exhibited more typical osteoarthritis‐like changes. Molecular analysis revealed that PPE caused cartilage circRNomics imbalance in which circGtdc1 decreased most significantly and persisted postnatally. Mechanistically, prednisolone reduced circGtdc1 expression and binding with Srsf1 to promote degradation of Srsf1 via K48‐linked polyubiquitination. This further inhibited the formation of EDA/B+Fn1 and activation of PI3K/AKT and TGFβ pathways, reducing chondrocyte proliferation and matrix synthesis. Finally, intra‐articular injection of offspring with AAV‐circGtdc1 ameliorated PPE‐induced chondrodysplasia, but this effect is reversed by Srsf1 knockout. Altogether, this study confirms that PPE causes chondrodysplasia and susceptibility to osteoarthritis by altering the circGtdc1‐Srsf1‐Fn1 axis; in vivo, overexpression of circGtdc1 can represent an effective intervention target for ameliorating PPE‐induced chondrodysplasia.

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GTDC1

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