Williams-Beuren Syndrome Related Methyltransferase WBSCR27: From Structure to Possible Function

Mariasina, Sofia S.; Chang, Chi‐Fon; Navalayeu, Tsimafei; Chugunova, Anastasia; Efimov, S. V.; Згода, В. Г.; Ivlev, Vasily A.; Донцова, О. А.; Сергиев, Петр В.; Polshakov, Vladimir I.

doi:10.3389/fmolb.2022.865743

Cited by 3 publications

(3 citation statements)

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“…WBS is a contiguous gene syndrome induced by a heterozygous deletion of 26 to 28 genes in the chromosome region 7q11.23. [2][3][4] This syndrome is caused by an unbalanced recombination on chromosome 7 during meiosis. Most cases are detected using fluorescence in situ hybridization.…”

Section: Introductionmentioning

confidence: 99%

“…The critical region encodes the elastin (ELN) gene, which contributes to some of the characteristic facial features of WBS. [4,5] WBS is characterized by highly variable phenotypes. [6,7] Patients usually show the characteristic "elfin face" appearance,…”

Section: Introductionmentioning

confidence: 99%

“…The critical region encodes the elastin ( ELN ) gene, which contributes to some of the characteristic facial features of WBS. [ 4 , 5 ]…”

Section: Introductionmentioning

confidence: 99%

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Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature

Yang,

Ai,

Bai

et al. 2024

Medicine

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Background: Williams-Beuren syndrome (WBS) is a rare genetic disorder caused by hemizygous microdeletion of contiguous genes on chromosome 7q11.23. Although the phenotype features extensive heterogeneity in severity and performance, WBS is not considered to be a predisposing factor for cancer development. Currently, hematologic cancers, mainly Burkitt lymphoma, are rarely reported in patients with WBS. Here in, we report a unique case of T-cell acute lymphoblastic leukemia in a male child with WBS. Methods: This retrospective study analyzed the clinical data of this case receiving chemotherapy were analyzed. This is a retrospective study. Results: The patient, who exhibited a typical WBS phenotype and presented with hemorrhagic spots. Chromosomal genome-wide chip analysis (CMA) revealed abnormalities on chromosomes 7 and 9. The fusion gene STIL-TAL1 and mutations in BCL11B, NOTCH1, and USP7 have also been found and all been associated with the occurrence of T-cell leukemia. The patient responded well to the chemotherapy. Conclusion: To the best of our knowledge, this is the first reported case of WBS in T-cell acute lymphoblastic leukemia. We want to emphasize that the occurrence of leukemia in this patient might be related to the loss of 7q11.23 and microdeletion of 9p21.3 (including 3 TSGs), but the relationship between WBS and malignancy remains unclear. Further studies are required to clarify the relationship between WBS and malignancy.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature

Yang,

Ai,

Bai

et al. 2024

Medicine

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Organophosphorus S-adenosyl-L-methionine mimetics: synthesis, stability, and substrate properties

Rudenko,

Mariasina,

Bolikhova

et al. 2024

Front. Chem.

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S-Adenosyl-l-methionine (SAM)-mediated methylation of biomolecules controls their function and regulates numerous vital intracellular processes. Analogs of SAM with a reporter group in place of the S-methyl group are widely used to study these processes. However, many of these analogs are chemically unstable that largely limits their practical application. We have developed a new compound, SAM-PH, which contains an H-phosphinic group (-P(O)(H)OH) instead of the SAM carboxylic group. SAM-PH is significantly more stable than SAM, retains functional activity in catechol-O-methyltransferase and methyltransferase WBSCR27 reactions. The last is associated with Williams–Beuren syndrome. Rac-SAM-PH was synthesized chemically, while (R,S)-SAM-PH and its analogs were prepared enzymatically either from H-phosphinic analogs of methionine (Met-PH) or H-phosphinic analog of S-adenosyl-l-homocysteine (SAH-PH) using methionine adenosyltransferase 2A or halide methyltransferases, respectively. SAH-PH undergoes glycoside bond cleavage in the presence of methylthioadenosine nucleosidase like natural SAH. Thus, SAM-PH and its analogs are promising new tools for investigating methyltransferases and incorporating reporter groups into their substrates.

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Identification of differentially expressed genes and splicing events in early-onset colorectal cancer

Marx,

Mankarious,

Koltun

et al. 2024

Front. Oncol.

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BackgroundThe incidence of colorectal cancer (CRC) has been steadily increasing in younger individuals over the past several decades for reasons that are incompletely defined. Identifying differences in gene expression profiles, or transcriptomes, in early-onset colorectal cancer (EOCRC, < 50 years old) patients versus later-onset colorectal cancer (LOCRC, > 50 years old) patients is one approach to understanding molecular and genetic features that distinguish EOCRC.MethodsWe performed RNA-sequencing (RNA-seq) to characterize the transcriptomes of patient-matched tumors and adjacent, uninvolved (normal) colonic segments from EOCRC (n=21) and LOCRC (n=22) patients. The EOCRC and LOCRC cohorts were matched for demographic and clinical characteristics. We used The Cancer Genome Atlas Colon Adenocarcinoma (TCGA-COAD) database for validation. We used a series of computational and bioinformatic tools to identify EOCRC-specific differentially expressed genes, molecular pathways, predicted cell populations, differential gene splicing events, and predicted neoantigens.ResultsWe identified an eight-gene signature in EOCRC comprised of ALDOB, FBXL16, IL1RN, MSLN, RAC3, SLC38A11, WBSCR27 and WNT11, from which we developed a score predictive of overall CRC patient survival. On the entire set of genes identified in normal tissues and tumors, cell type deconvolution analysis predicted a differential abundance of immune and non-immune populations in EOCRC versus LOCRC. Gene set enrichment analysis identified increased expression of splicing machinery in EOCRC. We further found differences in alternative splicing (AS) events, including one within the long non-coding RNA, HOTAIRM1. Additional analysis of AS found seven events specific to EOCRC that encode potential neoantigens.ConclusionOur transcriptome analyses identified genetic and molecular features specific to EOCRC which may inform future screening, development of prognostic indicators, and novel drug targets.

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Williams-Beuren Syndrome Related Methyltransferase WBSCR27: From Structure to Possible Function

Cited by 3 publications

References 64 publications

Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature

Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature

Organophosphorus S-adenosyl-L-methionine mimetics: synthesis, stability, and substrate properties

Identification of differentially expressed genes and splicing events in early-onset colorectal cancer

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