{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nXylosyltransferase I, encoded by XYLT1, is the chain‐initiating enzyme responsible for transferring xylose from UDP‐xylose onto specific serine residues of core proteins – the critical first step in proteoglycan biosynthesis. Disruption of this enzymatic function by homozygous or compound heterozygous mutations in XYLT1 has been implicated in several skeletal dysplasias. For example, loss‐of‐function mutations cause Desbuquois dysplasia type 2 and related skeletal disorders such as the Baratela–Scott syndrome and autosomal recessive short stature syndromes, in which aberrant proteoglycan synthesis perturbs cartilage and bone formation during development."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its central role in skeletal morphogenesis, XYLT1 is dynamically regulated in adult tissues, where its activity modulates extracellular matrix (ECM) remodeling. Elevated xylosyltransferase‑I activity has been observed in fibrotic remodeling of the myocardium, skin, and cartilage—in conditions such as cardiac fibrosis, osteoarthritis, systemic sclerosis, and even in connective tissue disorders like pseudoxanthoma elasticum. In addition, altered XT-I expression has been linked to vascular abnormalities, diabetic nephropathy, and abdominal aortic aneurysm, suggesting that aberrant proteoglycan synthesis driven by XYLT1 deregulation is a common pathogenic mechanism in these diverse diseases. Regulatory stimuli including transforming growth factor‑β, interleukin‑1β, activin A, as well as mechanical stress and specific microRNAs appear to modulate XYLT1 expression and serve as upstream triggers for abnormal ECM deposition."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "28"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, precise regulation of XYLT1 activity is achieved through its subcellular localization, structural domains, and complex transcriptional and post‐transcriptional mechanisms. XT-I is predominantly retained in the Golgi apparatus through determinants in its N‑terminal region, and its catalytic efficiency relies on conserved motifs—such as DXD sequences—and specific active‐site features that dictate acceptor substrate specificity. Moreover, transcriptional regulation of the XYLT1 gene involves promoter elements responsive to AP‑1, Sp1, and Sp3, while post-transcriptional modulation by microRNAs (for example, via miR‑29b) further fine-tunes XT-I expression. Innovative assays have been established to selectively measure XT-I activity, underscoring its utility as a biomarker for ECM remodeling in both physiological and pathological states, and highlighting the indispensability of xylosyltransferases for cellular viability."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "29", "end_ref": "32"}, {"type": "fg_f", "ref": "24"}, {"type": "fg_fs", "start_ref": "33", "end_ref": "36"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Catherine Bui, Céline Huber, Beyhan Tuysuz, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2018.11.005"}], "href": "https://doi.org/10.1016/j.ajhg.2018.11.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30554721"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30554721"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Julia Schreml, Burak Durmaz, Ozgur Cogulu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The missing \"link\": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-013-1351-y"}], "href": "https://doi.org/10.1007/s00439-013-1351-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23982343"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23982343"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Long Guo, Nursel H Elcioglu, Aritoshi Iida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jhg.2016.143"}], "href": "https://doi.org/10.1038/jhg.2016.143"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27881841"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27881841"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Aleksander Jamsheer, Ewelina M Olech, Kazimierz Kozłowski, et al. 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